V6L (p.Val6Leu) variant of COL4A5 (Collagen alpha-5(IV) chain)
V6L (p.Val6Leu) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
V6L (p.Val6Leu) variant details
- p.Val6Leu
- gnomAD X-108440141-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.42
- MetaLR 0.40
- MetaSVM -0.71
- CADD 18.30
- PolyPhen-2 0.08
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available