R31L (p.Arg31Leu) variant of GNA11 (P29992)
R31L (p.Arg31Leu) in GNA11 (P29992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
R31L (p.Arg31Leu) variant details
- p.Arg31Leu
- gnomAD 19-3094743-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.546
- REVEL 0.37
- AlphaMissense 0.84
- MetaLR 0.83
- MetaSVM 0.85
- CADD 23.80
- PolyPhen-2 0.99
- Population evidence available
- Structural context available
- Literature evidence available