C9R (p.Cys9Arg) variant of GNA11 (P29992)
C9R (p.Cys9Arg) 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.
C9R (p.Cys9Arg) variant details
- p.Cys9Arg
- gnomAD 19-3094676-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.607
- REVEL 0.65
- CADD 25.50
- PolyPhen-2 0.33
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available