L44M (p.Leu44Met) variant of GNA11 (P29992)
L44M (p.Leu44Met) in GNA11 (P29992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
L44M (p.Leu44Met) variant details
- p.Leu44Met
- gnomAD 19-3094781-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.606
- REVEL 0.61
- CADD 26.70
- PolyPhen-2 0.97
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available