R347T (p.Arg347Thr) variant of GNAS (P63092)
R347T (p.Arg347Thr) 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 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
R347T (p.Arg347Thr) variant details
- p.Arg347Thr
- rs2146304864
- ClinGen CA409453679
- ClinVar RCV001732172
- Ensembl rs2146304864
- Pathogenic
- Pseudohypoparathyroidism type I A
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- CADD 23.70
- SIFT 0.00
- ClinVar: Pathogenic (Pseudohypoparathyroidism type I A)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available
- Cited in: Disorders of GNAS Inactivation. (PMID 29072892)