V6A (p.Val6Ala) variant of COL4A5 (Collagen alpha-5(IV) chain)
V6A (p.Val6Ala) in COL4A5 (Collagen alpha-5(IV) 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.
V6A (p.Val6Ala) variant details
- p.Val6Ala
- gnomAD X-108440142-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.27
- MetaLR 0.42
- MetaSVM -0.59
- CADD 21.70
- PolyPhen-2 0.00
- SIFT 0.21
- Population evidence available
- Structural context available
- Literature evidence available