Write a ~2 paragraph summary of your variant ONLY. You are describing this variant to another scientist so tell them the name of your variant, the gene that is affected, etc., and make sure your summary also includes: Do not describe the columns in general, describe the data for your variant. (You should spend at least 15 minutes developing your CER.) i. The data for your variant in the ‘Conseq. Type’ column.and describe it in your own language. https://uswest.ensembl.org/Homo_sapiens/Transcript/Variation_Transcript/Table?db=core;g=ENSG00000171759;p=ENSP00000303500;r=12:102838324-102917254;t=ENST00000307000 (use the link for this point, in the Variant table type “rs62644501” in the search bar to find the Variant, there will be 2 variants, my chosen variant is the second variant listed) ii. The data under the ‘Alleles’ and ‘Residues’ and ‘Codons’ columns in your own words https://provean.jcvi.org/genome_view_table_2.php?jobid=1370631969445048 (use this link for this point) iii.Pick ONLY three (3) of the last six (6) columns (SIFT, PolyPhen, CADD, REVEL, MetaLR, and Mutation Assessor) and describe the data in your own words. https://uswest.ensembl.org/Homo_sapiens/Transcript/Variation_Transcript/Table?db=core;g=ENSG00000171759;p=ENSP00000303500;r=12:102838324-102917254;t=ENST00000307000 (use this link again, now for this point) iv. Is the variant pathogenic or benign and why you draw this conclusion; use evidence to support your conclusion. https://www.ncbi.nlm.nih.gov/clinvar/variation/102580/ https://pubmed.ncbi.nlm.nih.gov/26503515/ https://www.ncbi.nlm.nih.gov/medgen/19244 https://www.ncbi.nlm.nih.gov/medgen/C0031485/ (use these 4 links as needed for the last point)