L43M (p.Leu43Met) variant of GNA11 (P29992)
L43M (p.Leu43Met) in GNA11 (P29992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
L43M (p.Leu43Met) variant details
- p.Leu43Met
- gnomAD 19-3094778-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.703
- REVEL 0.71
- CADD 25.60
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available