G353R (p.Gly353Arg) variant of GNAS (P63092)
G353R (p.Gly353Arg) in GNAS (P63092) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Pseudopseudohypoparathyroidism; Pseudohypoparathyroidism type I A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes published literature and structural context.
G353R (p.Gly353Arg) variant details
- p.Gly353Arg
- rs2146305127
- ClinGen CA409453718
- ClinVar RCV001732173
- ClinVar RCV005866981
- Pathogenic/Likely pathogenic
- Pseudopseudohypoparathyroidism; Pseudohypoparathyroidism type I A
- Missense
- Variant Prioritization Score for Impact Estimate 0.738
- AlphaMissense 0.88
- MetaLR 0.76
- MetaSVM 0.62
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.65
- ClinVar: Pathogenic/Likely pathogenic (Pseudopseudohypoparathyroidism; Pseudohypoparathyroidism type I)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Disorders of GNAS Inactivation. (PMID 29072892)