D33Y (p.Asp33Tyr) variant of GNAS (P63092)
D33Y (p.Asp33Tyr) in GNAS (P63092) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
D33Y (p.Asp33Tyr) variant details
- p.Asp33Tyr
- gnomAD rs1255226034
- Missense
- Variant Prioritization Score for Impact Estimate 0.655
- REVEL 0.71
- CADD 19.70
- PolyPhen-2 0.63
- SIFT 0.02
- Population evidence available
- Structural context available