Q227H (p.Gln227His) variant of GNAS (P63092)
Q227H (p.Gln227His) in GNAS (P63092) is a missense change. The available record places it in the context of McCune-Albright syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
Q227H (p.Gln227His) variant details
- p.Gln227His
- rs137854533
- ClinGen CA126080
- cosmic curated COSV55670
- ClinVar RCV000017296
- not provided
- McCune-Albright syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.703
- REVEL 0.78
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: not provided (McCune-Albright syndrome)
- EBI: Pathogenic (in pituitary adenomas)
- UniProt: Pathogenic (in pituitary adenomas)
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: G-protein mutations in human pituitary adrenocorticotrophic hormone-secreting adenomas. (PMID 7737262)
- Cited in: Fibrous Dysplasia / McCune-Albright Syndrome. (PMID 25719192)