G72V (p.Gly72Val) variant of COL4A5 (Collagen alpha-5(IV) chain)
G72V (p.Gly72Val) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
G72V (p.Gly72Val) variant details
- p.Gly72Val
- gnomAD X-108559137-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.865
- REVEL 0.98
- CADD 24.40
- PolyPhen-2 1.00
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available