R209C (p.Arg209Cys) variant of GBA1 (P04062)
R209C (p.Arg209Cys) in GBA1 (P04062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely 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 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
R209C (p.Arg209Cys) variant details
- p.Arg209Cys
- rs398123532
- ClinGen CA221403
- ClinVar RCV000179793
- ClinVar RCV000780284
- Pathogenic/Likely pathogenic
- Gaucher disease type I; Gaucher disease type II; Gaucher disease type III
- Missense
- Variant Prioritization Score for Impact Estimate 0.764
- REVEL 0.83
- CADD 25.40
- PolyPhen-2 0.87
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Gaucher disease type I; Gaucher disease type II; Gaucher disease)
- EBI: Pathogenic (in GD1)
- UniProt: Pathogenic (in GD1)
- Most common in the Non-Finnish European population (allele frequency 4.5e-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: Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients. (PMID 12204005)