L11M (p.Leu11Met) variant of COL6A1 (Collagen alpha-1(VI) chain)
L11M (p.Leu11Met) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
L11M (p.Leu11Met) variant details
- p.Leu11Met
- gnomAD 21-45981881-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.40
- MetaLR 0.64
- MetaSVM -0.21
- CADD 25.10
- PolyPhen-2 0.99
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available