R159W (p.Arg159Trp) variant of GBA1 (P04062)
R159W (p.Arg159Trp) in GBA1 (P04062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of GBA1-related disorder; not provided; Gaucher disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
R159W (p.Arg159Trp) variant details
- p.Arg159Trp
- rs439898
- ClinGen CA221398
- ClinVar RCV000055774
- ClinVar RCV000179355
- Pathogenic
- GBA1-related disorder; not provided; Gaucher disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.686
- REVEL 0.92
- CADD 24.40
- PolyPhen-2 0.93
- SIFT 0.02
- ClinVar: Pathogenic (GBA1-related disorder; not provided; Gaucher disease)
- EBI: Pathogenic (in GD1 and GD2)
- UniProt: Pathogenic (in GD1 and GD2)
- Most common in the South Asian population (allele frequency 0.00044)
- 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: Identification and functional characterization of five novel mutant alleles in 58 Italian patients with Gaucher disease… (PMID 15605411)