V32A (p.Val32Ala) variant of COL4A3 (Collagen alpha-3(IV) chain)
V32A (p.Val32Ala) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
V32A (p.Val32Ala) variant details
- p.Val32Ala
- gnomAD 2-227237975-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.22
- CADD 17.00
- PolyPhen-2 0.07
- SIFT 0.53
- Population evidence available
- Structural context available
- Literature evidence available