G30D (p.Gly30Asp) variant of COL4A3 (Collagen alpha-3(IV) chain)
G30D (p.Gly30Asp) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
G30D (p.Gly30Asp) variant details
- p.Gly30Asp
- Ensembl rs2068790420
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.44
- CADD 25.40
- PolyPhen-2 0.56
- SIFT 0.01
- Population evidence available
- Structural context available