F40Y (p.Phe40Tyr) variant of COL4A3 (Collagen alpha-3(IV) chain)
F40Y (p.Phe40Tyr) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
F40Y (p.Phe40Tyr) variant details
- p.Phe40Tyr
- gnomAD 2-227237999-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.23
- CADD 19.70
- PolyPhen-2 0.64
- SIFT 0.92
- Population evidence available
- Structural context available
- Literature evidence available