A24V (p.Ala24Val) variant of COL4A5 (Collagen alpha-5(IV) chain)
A24V (p.Ala24Val) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
A24V (p.Ala24Val) variant details
- p.Ala24Val
- gnomAD X-108440196-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.43
- MetaLR 0.45
- MetaSVM -0.44
- CADD 22.20
- PolyPhen-2 0.14
- SIFT 0.66
- Population evidence available
- Structural context available
- Literature evidence available