R38C (p.Arg38Cys) variant of GNA11 (P29992)
R38C (p.Arg38Cys) in GNA11 (P29992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
R38C (p.Arg38Cys) variant details
- p.Arg38Cys
- gnomAD 19-3094763-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- REVEL 0.73
- CADD 32.00
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available