L16H (p.Leu16His) variant of COL4A3 (Collagen alpha-3(IV) chain)
L16H (p.Leu16His) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
L16H (p.Leu16His) variant details
- p.Leu16His
- gnomAD 2-227164773-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.37
- CADD 20.40
- PolyPhen-2 0.62
- SIFT 0.54
- Population evidence available
- Structural context available
- Literature evidence available