R265H (p.Arg265His) variant of GNAS (P63092)
R265H (p.Arg265His) in GNAS (P63092) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Pseudohypoparathyroidism type I A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
R265H (p.Arg265His) variant details
- p.Arg265His
- rs2146285582
- ClinGen CA409452667
- NCI-TCGA Cosmic COSV5567
- cosmic curated COSV55672
- Pathogenic/Likely pathogenic
- not provided; Pseudohypoparathyroidism type I A
- Missense
- Variant Prioritization Score for Impact Estimate 0.887
- AlphaMissense 1.00
- MetaLR 0.94
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.67
- ClinVar: Pathogenic/Likely pathogenic (not provided; Pseudohypoparathyroidism type I A)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Disorders of GNAS Inactivation. (PMID 29072892)