R170C (p.Arg170Cys) variant of GBA1 (P04062)
R170C (p.Arg170Cys) 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 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
R170C (p.Arg170Cys) variant details
- p.Arg170Cys
- rs398123530
- ClinGen CA221401
- ClinVar RCV000179353
- ClinVar RCV001004135
- Pathogenic
- Gaucher disease type I; Gaucher disease type II; Gaucher disease type III
- Missense
- Variant Prioritization Score for Impact Estimate 0.696
- REVEL 0.83
- CADD 26.80
- PolyPhen-2 0.60
- SIFT 0.03
- 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 9.3e-07)
- Structural context available
- Cited in: Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients. (PMID 12204005)
- Cited in: Identification and functional characterization of five novel mutant alleles in 58 Italian patients with Gaucher disease… (PMID 15605411)