R228C (p.Arg228Cys) variant of GNAS (P63092)
R228C (p.Arg228Cys) 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; not provided; Pseudohypoparathyroidism type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
R228C (p.Arg228Cys) variant details
- p.Arg228Cys
- rs2146278555
- ClinGen CA409452305
- cosmic curated COSV55675
- ClinVar RCV001732166
- Pathogenic
- Pseudohypoparathyroidism type I A; not provided; Pseudohypoparathyroidism type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.872
- AlphaMissense 1.00
- MetaLR 0.90
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.69
- ClinVar: Pathogenic (Pseudohypoparathyroidism type I A; not provided; Pseudohypoparat)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Disorders of GNAS Inactivation. (PMID 29072892)