F40L (p.Phe40Leu) variant of COL4A3 (Collagen alpha-3(IV) chain)
F40L (p.Phe40Leu) 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.
F40L (p.Phe40Leu) variant details
- p.Phe40Leu
- gnomAD 2-227238000-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.19
- CADD 17.40
- PolyPhen-2 0.04
- SIFT 0.64
- Population evidence available
- Structural context available
- Literature evidence available