C29Y (p.Cys29Tyr) variant of COL4A5 (Collagen alpha-5(IV) chain)
C29Y (p.Cys29Tyr) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
C29Y (p.Cys29Tyr) variant details
- p.Cys29Tyr
- gnomAD X-108539750-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.581
- REVEL 0.64
- MetaLR 0.67
- MetaSVM 0.51
- CADD 24.20
- PolyPhen-2 0.99
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available