V3V (p.Val3Val) variant of COL5A1 (Collagen alpha-1(V) chain)
V3V (p.Val3Val) in COL5A1 (Collagen alpha-1(V) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
V3V (p.Val3Val) variant details
- p.Val3Val
- gnomAD 9-134642196-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.308
- CADD 13.90
- Population evidence available
- Structural context available
- Literature evidence available