R231H (p.Arg231His) variant of GNAS (P63092)
R231H (p.Arg231His) in GNAS (P63092) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Pseudohypoparathyroidism type I A; GNAS-related disorder; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
R231H (p.Arg231His) variant details
- p.Arg231His
- rs137854538
- ClinGen CA126099
- cosmic curated COSV55676
- ClinVar RCV000017311
- Pathogenic
- Pseudohypoparathyroidism type I A; GNAS-related disorder; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.894
- AlphaMissense 1.00
- MetaLR 0.94
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.70
- ClinVar: Pathogenic (Pseudohypoparathyroidism type I A; GNAS-related disorder; not pr)
- EBI: Pathogenic (in AHO)
- UniProt: Pathogenic (in AHO)
- Structural context available
- Cited in: Two mutations of the Gsalpha gene in two Japanese patients with sporadic pseudohypoparathyroidism type Ia. (PMID 11450852)
- Cited in: Pseudohypoparathyroidism, a novel mutation in the betagamma-contact region of Gsalpha impairs receptor stimulation. (PMID 8702665)