G5R (p.Gly5Arg) variant of GNAS (P63092)
G5R (p.Gly5Arg) in GNAS (P63092) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of GNAS-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
G5R (p.Gly5Arg) variant details
- p.Gly5Arg
- gnomAD rs1349914271
- Uncertain significance
- GNAS-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- REVEL 0.47
- CADD 19.30
- PolyPhen-2 0.34
- SIFT 0.07
- ClinVar: Uncertain significance (GNAS-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:SARDINIAN population (allele frequency 0.019)
- Structural context available