V54V (p.Val54Val) variant of COL3A1 (Collagen alpha-1(III) chain)
V54V (p.Val54Val) in COL3A1 (Collagen alpha-1(III) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
V54V (p.Val54Val) variant details
- p.Val54Val
- rs1481129837
- gnomAD 2-188984842-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.379
- CADD 12.70
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available
- Literature evidence available