L21M (p.Leu21Met) variant of COL4A3 (Collagen alpha-3(IV) chain)
L21M (p.Leu21Met) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
L21M (p.Leu21Met) variant details
- p.Leu21Met
- gnomAD 2-227164787-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.21
- CADD 23.20
- PolyPhen-2 0.69
- SIFT 0.13
- Population evidence available
- Structural context available
- Literature evidence available