C10R (p.Cys10Arg) variant of GNA11 (P29992)
C10R (p.Cys10Arg) in GNA11 (P29992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
C10R (p.Cys10Arg) variant details
- p.Cys10Arg
- gnomAD 19-3094679-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.676
- REVEL 0.73
- CADD 29.30
- PolyPhen-2 0.99
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available