L3M (p.Leu3Met) variant of COL4A5 (Collagen alpha-5(IV) chain)
L3M (p.Leu3Met) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
L3M (p.Leu3Met) variant details
- p.Leu3Met
- gnomAD X-108440132-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.25
- MetaLR 0.46
- MetaSVM -0.44
- CADD 21.40
- PolyPhen-2 0.29
- SIFT 0.21
- Population evidence available
- Structural context available
- Literature evidence available