V41V (p.Val41Val) variant of COL6A1 (Collagen alpha-1(VI) chain)
V41V (p.Val41Val) in COL6A1 (Collagen alpha-1(VI) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
V41V (p.Val41Val) variant details
- p.Val41Val
- rs148867790
- gnomAD 21-45982659-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.24
- CADD 14.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available