R34H (p.Arg34His) variant of GNA11 (P29992)
R34H (p.Arg34His) in GNA11 (P29992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
R34H (p.Arg34His) variant details
- p.Arg34His
- gnomAD 19-3094752-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.32
- AlphaMissense 0.19
- MetaLR 0.42
- MetaSVM -0.54
- CADD 24.50
- PolyPhen-2 0.03
- Population evidence available
- Structural context available
- Literature evidence available