R228H (p.Arg228His) variant of GNAS (P63092)
R228H (p.Arg228His) in GNAS (P63092) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; McCune-Albright syndrome; Pseudohypoparathyroidism type I A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
R228H (p.Arg228His) variant details
- p.Arg228His
- rs1317816474
- ClinGen CA409452306
- ClinVar RCV002247220
- ClinVar RCV002488630
- Uncertain significance
- not provided; McCune-Albright syndrome; Pseudohypoparathyroidism type I A
- Missense
- Variant Prioritization Score for Impact Estimate 0.802
- REVEL 0.80
- CADD 28.80
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; McCune-Albright syndrome; Pseudohypoparathyroidism)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available
- Cited in: Fibrous Dysplasia / McCune-Albright Syndrome. (PMID 25719192)
- Cited in: Disorders of GNAS Inactivation. (PMID 29072892)