V48V (p.Val48Val) variant of COL6A1 (Collagen alpha-1(VI) chain)
V48V (p.Val48Val) in COL6A1 (Collagen alpha-1(VI) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
V48V (p.Val48Val) variant details
- p.Val48Val
- rs1333093742
- gnomAD 21-45982680-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.406
- CADD 12.80
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available