C33Y (p.Cys33Tyr) variant of COL4A3 (Collagen alpha-3(IV) chain)
C33Y (p.Cys33Tyr) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
C33Y (p.Cys33Tyr) variant details
- p.Cys33Tyr
- gnomAD 2-227237978-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.696
- REVEL 0.65
- CADD 26.00
- PolyPhen-2 0.95
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available