L20H (p.Leu20His) variant of COL4A3 (Collagen alpha-3(IV) chain)
L20H (p.Leu20His) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
L20H (p.Leu20His) variant details
- p.Leu20His
- gnomAD 2-227164785-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.36
- CADD 22.10
- PolyPhen-2 0.75
- SIFT 0.44
- Population evidence available
- Structural context available
- Literature evidence available