L17M (p.Leu17Met) variant of COL4A3 (Collagen alpha-3(IV) chain)
L17M (p.Leu17Met) 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 and structural context.
L17M (p.Leu17Met) variant details
- p.Leu17Met
- gnomAD rs1392367404
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.35
- CADD 14.80
- PolyPhen-2 0.37
- SIFT 0.11
- Population evidence available
- Structural context available