L11M (p.Leu11Met) variant of GNA11 (P29992)
L11M (p.Leu11Met) in GNA11 (P29992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
L11M (p.Leu11Met) variant details
- p.Leu11Met
- gnomAD 19-3094682-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.33
- CADD 22.70
- PolyPhen-2 0.20
- SIFT 0.25
- Population evidence available
- Structural context available
- Literature evidence available