R20L (p.Arg20Leu) variant of GNA11 (P29992)
R20L (p.Arg20Leu) 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.
R20L (p.Arg20Leu) variant details
- p.Arg20Leu
- gnomAD 19-3094710-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.699
- REVEL 0.71
- CADD 25.30
- PolyPhen-2 0.92
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available