H41Y (p.His41Tyr) variant of GNAS (P63092)
H41Y (p.His41Tyr) in GNAS (P63092) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
H41Y (p.His41Tyr) variant details
- p.His41Tyr
- rs2516800364
- ClinGen CA409449043
- ClinVar RCV003031619
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.34
- CADD 19.70
- PolyPhen-2 0.24
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available