Q227R (p.Gln227Arg) variant of GNAS (P63092)
Q227R (p.Gln227Arg) in GNAS (P63092) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of McCune-Albright syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
Q227R (p.Gln227Arg) variant details
- p.Gln227Arg
- rs121913494
- ClinGen CA126074
- cosmic curated COSV55671
- ClinVar RCV000017294
- Likely pathogenic
- McCune-Albright syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.772
- REVEL 0.89
- AlphaMissense 0.99
- MetaLR 0.84
- MetaSVM 0.90
- CADD 27.60
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (McCune-Albright syndrome)
- EBI: Pathogenic (in somatotrophinoma)
- UniProt: Pathogenic (in somatotrophinoma)
- Population evidence available
- Structural context available
- Cited in: GTPase inhibiting mutations activate the alpha chain of Gs and stimulate adenylyl cyclase in human pituitary tumours. (PMID 2549426)
- Cited in: G-protein mutations in human pituitary adrenocorticotrophic hormone-secreting adenomas. (PMID 7737262)