C3S (p.Cys3Ser) variant of GNAS (P63092)
C3S (p.Cys3Ser) in GNAS (P63092) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
C3S (p.Cys3Ser) variant details
- p.Cys3Ser
- rs1064794045
- ClinGen CA16620943
- ClinVar RCV000484773
- Ensembl rs1064794045
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.617
- REVEL 0.72
- CADD 19.20
- PolyPhen-2 1.00
- SIFT 0.04
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available