R356H (p.Arg356His) variant of GNAS (P63092)
R356H (p.Arg356His) 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. 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.
R356H (p.Arg356His) variant details
- p.Arg356His
- rs2146305299
- ClinGen CA409453740
- NCI-TCGA Cosmic COSV9967
- cosmic curated COSV99670
- Pathogenic
- Pseudohypoparathyroidism type I A
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- REVEL 0.77
- MetaLR 0.67
- MetaSVM 0.33
- CADD 31.00
- PolyPhen-2 0.85
- SIFT 0.00
- ClinVar: Pathogenic (Pseudohypoparathyroidism type I A)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Disorders of GNAS Inactivation. (PMID 29072892)