L3M (p.Leu3Met) variant of GNA11 (P29992)
L3M (p.Leu3Met) in GNA11 (P29992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
L3M (p.Leu3Met) variant details
- p.Leu3Met
- gnomAD 19-3094658-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.26
- CADD 20.90
- PolyPhen-2 0.05
- SIFT 0.33
- Population evidence available
- Structural context available
- Literature evidence available