R231C (p.Arg231Cys) variant of GNAS (P63092)
R231C (p.Arg231Cys) in GNAS (P63092) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Pseudohypoparathyroidism type 1C; Pseudohypoparathyroidism type 1B. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
R231C (p.Arg231Cys) variant details
- p.Arg231Cys
- rs1601162438
- ClinGen CA409452326
- ClinVar RCV001007922
- ClinVar RCV001269956
- Pathogenic/Likely pathogenic
- not provided; Pseudohypoparathyroidism type 1C; Pseudohypoparathyroidism type 1B
- Missense
- Variant Prioritization Score for Impact Estimate 0.892
- AlphaMissense 1.00
- MetaLR 0.93
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.70
- ClinVar: Pathogenic/Likely pathogenic (not provided; Pseudohypoparathyroidism type 1C; Pseudohypoparath)
- EBI: Pathogenic (in AHO)
- UniProt: Pathogenic (in AHO)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)