G37C (p.Gly37Cys) variant of COL4A3 (Collagen alpha-3(IV) chain)
G37C (p.Gly37Cys) 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, published literature, and structural context.
G37C (p.Gly37Cys) variant details
- p.Gly37Cys
- gnomAD 2-227237989-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.53
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available