A10V (p.Ala10Val) variant of COL4A5 (Collagen alpha-5(IV) chain)
A10V (p.Ala10Val) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
A10V (p.Ala10Val) variant details
- p.Ala10Val
- gnomAD X-108440154-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.38
- MetaLR 0.39
- MetaSVM -0.62
- CADD 20.00
- PolyPhen-2 0.14
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available