L13M (p.Leu13Met) variant of COL4A3 (Collagen alpha-3(IV) chain)
L13M (p.Leu13Met) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
L13M (p.Leu13Met) variant details
- p.Leu13Met
- gnomAD 2-227164763-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.20
- CADD 13.50
- PolyPhen-2 0.02
- SIFT 0.22
- Population evidence available
- Structural context available
- Literature evidence available