G47S (p.Gly47Ser) variant of GNAS (P63092)
G47S (p.Gly47Ser) in GNAS (P63092) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of GNAS-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
G47S (p.Gly47Ser) variant details
- p.Gly47Ser
- rs2516801467
- cosmic curated COSV10881
- ClinGen CA409449099
- ClinVar RCV004536906
- Likely pathogenic
- GNAS-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.749
- REVEL 0.86
- CADD 20.70
- PolyPhen-2 0.91
- SIFT 0.02
- ClinVar: Likely pathogenic (GNAS-related disorder)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available