S5Y (p.Ser5Tyr) variant of GNA11 (P29992)
S5Y (p.Ser5Tyr) in GNA11 (P29992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
S5Y (p.Ser5Tyr) variant details
- p.Ser5Tyr
- gnomAD 19-3094665-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.546
- REVEL 0.47
- CADD 22.60
- PolyPhen-2 0.34
- SIFT 0.45
- Population evidence available
- Structural context available
- Literature evidence available