V19A (p.Val19Ala) variant of COL4A3 (Collagen alpha-3(IV) chain)
V19A (p.Val19Ala) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
V19A (p.Val19Ala) variant details
- p.Val19Ala
- gnomAD 2-227164782-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.17
- CADD 15.30
- PolyPhen-2 0.00
- SIFT 0.63
- Population evidence available
- Structural context available
- Literature evidence available