L14M (p.Leu14Met) variant of COL4A3 (Collagen alpha-3(IV) chain)
L14M (p.Leu14Met) in COL4A3 (Collagen alpha-3(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.
L14M (p.Leu14Met) variant details
- p.Leu14Met
- gnomAD 2-227164766-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.13
- CADD 12.80
- PolyPhen-2 0.05
- SIFT 0.22
- Population evidence available
- Structural context available
- Literature evidence available