R502C (p.Arg502Cys) variant of GBA1 (P04062)
R502C (p.Arg502Cys) in GBA1 (P04062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Gaucher disease type I; Gaucher disease type II; Gaucher disease type III. 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.
R502C (p.Arg502Cys) variant details
- p.Arg502Cys
- rs80356771
- ClinGen CA221394
- cosmic curated COSV59170
- ClinVar RCV000004528
- Pathogenic
- Gaucher disease type I; Gaucher disease type II; Gaucher disease type III
- Missense
- Variant Prioritization Score for Impact Estimate 0.809
- REVEL 0.82
- MetaLR 0.97
- MetaSVM 1.06
- CADD 31.00
- PolyPhen-2 0.93
- SIFT 0.01
- ClinVar: Pathogenic (Gaucher disease type I; Gaucher disease type II; Gaucher disease)
- EBI: Pathogenic (in GD1 and GD2)
- UniProt: Pathogenic (in GD1 and GD2)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease. (PMID 10796875)
- Cited in: Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroup. (PMID 12595585)