R265C (p.Arg265Cys) variant of GNAS (P63092)
R265C (p.Arg265Cys) 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; Inborn genetic diseases; Pseudohypoparathyroidism type I A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
R265C (p.Arg265Cys) variant details
- p.Arg265Cys
- rs1555891595
- ClinGen CA409452665
- NCI-TCGA Cosmic COSV5567
- cosmic curated COSV55677
- Pathogenic/Likely pathogenic
- not provided; Inborn genetic diseases; Pseudohypoparathyroidism type I A
- Missense
- Variant Prioritization Score for Impact Estimate 0.13
- CADD 7.03
- ClinVar: Pathogenic/Likely pathogenic (not provided; Inborn genetic diseases; Pseudohypoparathyroidism)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-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)