D43D (p.Asp43Asp) variant of COL6A1 (Collagen alpha-1(VI) chain)
D43D (p.Asp43Asp) in COL6A1 (Collagen alpha-1(VI) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
D43D (p.Asp43Asp) variant details
- p.Asp43Asp
- rs1376425830
- gnomAD 21-45982665-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.394
- CADD 14.60
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available