R38S (p.Arg38Ser) variant of GNA11 (P29992)
R38S (p.Arg38Ser) in GNA11 (P29992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
R38S (p.Arg38Ser) variant details
- p.Arg38Ser
- gnomAD 19-3094763-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.605
- REVEL 0.55
- CADD 24.80
- PolyPhen-2 0.91
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available