R201G (p.Arg201Gly) variant of GNAS (P63092)
R201G (p.Arg201Gly) in GNAS (P63092) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of McCune-Albright syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
R201G (p.Arg201Gly) variant details
- p.Arg201Gly
- rs11554273
- ClinGen CA341353
- cosmic curated COSV55677
- ClinVar RCV000017310
- Pathogenic
- McCune-Albright syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.901
- REVEL 0.97
- CADD 28.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (McCune-Albright syndrome)
- EBI: Pathogenic (in MAS)
- UniProt: Pathogenic (in MAS)
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: A novel GNAS1 mutation, R201G, in McCune-albright syndrome. (PMID 10571700)
- Cited in: Overexpression of Gs alpha subunit in thyroid tumors bearing a mutated Gs alpha gene. (PMID 7751320)