A17V (p.Ala17Val) variant of COL5A1 (Collagen alpha-1(V) chain)
A17V (p.Ala17Val) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
A17V (p.Ala17Val) variant details
- p.Ala17Val
- gnomAD 9-134642237-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.23
- CADD 15.50
- PolyPhen-2 0.00
- SIFT 0.53
- Population evidence available
- Structural context available
- Literature evidence available