L11M (p.Leu11Met) variant of ABCG8 (Q9H221)
L11M (p.Leu11Met) in ABCG8 (Q9H221) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
L11M (p.Leu11Met) variant details
- p.Leu11Met
- gnomAD 2-43839084-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.09
- MetaLR 0.42
- MetaSVM -0.54
- CADD 8.55
- PolyPhen-2 0.04
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available