P73H (p.Pro73His) variant of COL4A5 (Collagen alpha-5(IV) chain)
P73H (p.Pro73His) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
P73H (p.Pro73His) variant details
- p.Pro73His
- gnomAD X-108559140-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.37
- CADD 20.30
- PolyPhen-2 0.01
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available