L8M (p.Leu8Met) variant of COL6A1 (Collagen alpha-1(VI) chain)
L8M (p.Leu8Met) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
L8M (p.Leu8Met) variant details
- p.Leu8Met
- gnomAD 21-45981872-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.24
- MetaLR 0.43
- MetaSVM -0.32
- CADD 21.70
- PolyPhen-2 0.16
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available