R42C (p.Arg42Cys) variant of GNAS (P63092)
R42C (p.Arg42Cys) in GNAS (P63092) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of GNAS-related disorder; not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
R42C (p.Arg42Cys) variant details
- p.Arg42Cys
- rs2145916888
- ClinGen CA409449059
- ClinVar RCV003050558
- ClinVar RCV004536549
- Pathogenic
- GNAS-related disorder; not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.66
- REVEL 0.73
- CADD 17.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (GNAS-related disorder; not provided; Inborn genetic diseases)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- 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)