R199C (p.Arg199Cys) variant of GNAS (P63092)
R199C (p.Arg199Cys) 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 0.90 / 1. The record also includes published literature and structural context.
R199C (p.Arg199Cys) variant details
- p.Arg199Cys
- rs2146270332
- ClinGen CA409452101
- NCI-TCGA Cosmic COSV5567
- cosmic curated COSV55673
- Pathogenic
- Pseudohypoparathyroidism type I A
- Missense
- Variant Prioritization Score for Impact Estimate 0.902
- AlphaMissense 0.99
- MetaLR 0.97
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.68
- ClinVar: Pathogenic (Pseudohypoparathyroidism type I A)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Disorders of GNAS Inactivation. (PMID 29072892)