Q35H (p.Gln35His) variant of GNAS (P63092)
Q35H (p.Gln35His) in GNAS (P63092) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
Q35H (p.Gln35His) variant details
- p.Gln35His
- ExAC rs747013992
- TOPMed rs747013992
- gnomAD rs747013992
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.26
- CADD 16.90
- PolyPhen-2 0.01
- SIFT 0.18
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available