R42S (p.Arg42Ser) variant of GNAS (P63092)
R42S (p.Arg42Ser) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
R42S (p.Arg42Ser) variant details
- p.Arg42Ser
- rs2145916888
- ClinGen CA409449055
- ClinVar RCV001732160
- Ensembl rs2145916888
- Pathogenic
- Pseudohypoparathyroidism type I A
- Missense
- Variant Prioritization Score for Impact Estimate 0.68
- REVEL 0.77
- CADD 17.50
- PolyPhen-2 0.96
- SIFT 0.01
- ClinVar: Pathogenic (Pseudohypoparathyroidism type I A)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Disorders of GNAS Inactivation. (PMID 29072892)