R38G (p.Arg38Gly) variant of GNAS (P63092)
R38G (p.Arg38Gly) 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 0.31 / 1. The record also includes population frequency data and structural context.
R38G (p.Arg38Gly) variant details
- p.Arg38Gly
- TOPMed rs994421324
- gnomAD rs994421324
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.31
- CADD 16.20
- PolyPhen-2 0.30
- SIFT 0.31
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.5e-05)
- Structural context available