R232H (p.Arg232His) variant of GNAS (P63092)
R232H (p.Arg232His) in GNAS (P63092) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Pseudohypoparathyroidism type I A; GNAS-related disorder; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
R232H (p.Arg232His) variant details
- p.Arg232His
- rs2146279167
- ClinGen CA409452332
- NCI-TCGA Cosmic COSV5567
- cosmic curated COSV55674
- Uncertain significance
- Pseudohypoparathyroidism type I A; GNAS-related disorder; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- REVEL 0.83
- CADD 27.90
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Uncertain significance (Pseudohypoparathyroidism type 1C; Pseudohypoparathyroidism type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Fibrous Dysplasia / McCune-Albright Syndrome. (PMID 25719192)
- Cited in: Disorders of GNAS Inactivation. (PMID 29072892)