R258P (p.Arg258Pro) variant of GNAS (P63092)
R258P (p.Arg258Pro) in GNAS (P63092) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Pseudohypoparathyroidism type I A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
R258P (p.Arg258Pro) variant details
- p.Arg258Pro
- rs1555891584
- ClinVar RCV006445016
- Ensembl rs1555891584
- Likely pathogenic
- Pseudohypoparathyroidism type I A
- Missense
- Variant Prioritization Score for Impact Estimate 0.526
- CADD 7.93
- ClinVar: Likely pathogenic (Pseudohypoparathyroidism type I A)
- EBI: Pathogenic (in AHO)
- UniProt: Pathogenic (in AHO)
- Most common in the South Asian population (allele frequency 0.00041)
- Structural context available
- Cited in: Disorders of GNAS Inactivation. (PMID 29072892)