R201H (p.Arg201His) variant of GNAS (P63092)
R201H (p.Arg201His) in GNAS (P63092) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Pseudohypoparathyroidism type I A; Pseudohypoparathyroidism type 1B; Pseudopseud. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
R201H (p.Arg201His) variant details
- p.Arg201His
- rs121913495
- ClinGen CA126069
- cosmic curated COSV55670
- ClinVar RCV000017290
- Pathogenic/Likely pathogenic
- Pseudohypoparathyroidism type I A; Pseudohypoparathyroidism type 1B; Pseudopseud
- Missense
- Variant Prioritization Score for Impact Estimate 0.913
- REVEL 0.97
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.04
- ClinVar: Pathogenic/Likely pathogenic (Pseudohypoparathyroidism type I A; Pseudohypoparathyroidism type)
- EBI: Pathogenic (in MAS and AIMAH1)
- UniProt: Pathogenic (in MAS and AIMAH1)
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available
- Cited in: Cushing's syndrome secondary to adrenocorticotropin-independent macronodular adrenocortical hyperplasia due to… (PMID 12727968)
- Cited in: Thyroid carcinoma in the McCune-Albright syndrome: contributory role of activating Gs alpha mutations. (PMID 12970318)