R34C (p.Arg34Cys) variant of GNA11 (P29992)
R34C (p.Arg34Cys) in GNA11 (P29992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
R34C (p.Arg34Cys) variant details
- p.Arg34Cys
- Ensembl rs1913319191
- Missense
- Variant Prioritization Score for Impact Estimate 0.695
- REVEL 0.67
- CADD 31.00
- PolyPhen-2 0.83
- SIFT 0.01
- Population evidence available
- Structural context available