C9F (p.Cys9Phe) variant of GNA11 (P29992)
C9F (p.Cys9Phe) in GNA11 (P29992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
C9F (p.Cys9Phe) variant details
- p.Cys9Phe
- gnomAD 19-3094677-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.773
- REVEL 0.81
- CADD 31.00
- PolyPhen-2 0.95
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available