A23V (p.Ala23Val) variant of COL4A3 (Collagen alpha-3(IV) chain)
A23V (p.Ala23Val) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
A23V (p.Ala23Val) variant details
- p.Ala23Val
- gnomAD 2-227164794-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.195
- REVEL 0.15
- CADD 15.50
- PolyPhen-2 0.01
- SIFT 0.36
- Population evidence available
- Structural context available
- Literature evidence available