Q31H (p.Gln31His) variant of GNAS (P63092)
Q31H (p.Gln31His) 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 0.54 / 1. The record also includes population frequency data and structural context.
Q31H (p.Gln31His) variant details
- p.Gln31His
- rs780295677
- ClinGen CA409448939
- ClinVar RCV003699155
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.537
- REVEL 0.51
- CADD 19.10
- PolyPhen-2 0.65
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available