R342Q (p.Arg342Gln) variant of GNAS (P63092)
R342Q (p.Arg342Gln) 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 0.66 / 1. The record also includes published literature and structural context.
R342Q (p.Arg342Gln) variant details
- p.Arg342Gln
- rs2146300461
- ClinGen CA409453634
- NCI-TCGA Cosmic COSV5568
- cosmic curated COSV55681
- Pathogenic
- Pseudohypoparathyroidism type I A
- Missense
- Variant Prioritization Score for Impact Estimate 0.659
- AlphaMissense 0.92
- MetaLR 0.70
- MetaSVM 0.15
- PolyPhen-2 1.00
- SIFT 0.09
- EVE 0.61
- ClinVar: Pathogenic (Pseudohypoparathyroidism type I A)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Disorders of GNAS Inactivation. (PMID 29072892)