R37L (p.Arg37Leu) variant of GNA11 (P29992)
R37L (p.Arg37Leu) in GNA11 (P29992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
R37L (p.Arg37Leu) variant details
- p.Arg37Leu
- TOPMed rs1486864119
- gnomAD rs1486864119
- Missense
- Variant Prioritization Score for Impact Estimate 0.666
- REVEL 0.65
- CADD 27.50
- PolyPhen-2 0.48
- SIFT 0.06
- Population evidence available
- Structural context available