V19M (p.Val19Met) variant of COL4A3 (Collagen alpha-3(IV) chain)
V19M (p.Val19Met) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
V19M (p.Val19Met) variant details
- p.Val19Met
- Ensembl rs2065149681
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- REVEL 0.22
- CADD 9.56
- PolyPhen-2 0.13
- SIFT 0.15
- Population evidence available
- Structural context available