R38H (p.Arg38His) variant of GNA11 (P29992)
R38H (p.Arg38His) in GNA11 (P29992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
R38H (p.Arg38His) variant details
- p.Arg38His
- gnomAD 19-3094764-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.615
- REVEL 0.55
- AlphaMissense 0.98
- MetaLR 0.60
- MetaSVM 0.34
- CADD 31.00
- PolyPhen-2 1.00
- Population evidence available
- Structural context available
- Literature evidence available