R87W (p.Arg87Trp) variant of GBA1 (P04062)
R87W (p.Arg87Trp) 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 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
R87W (p.Arg87Trp) variant details
- p.Arg87Trp
- rs1141814
- ClinGen CA253098
- NCI-TCGA Cosmic COSV1005
- cosmic curated COSV10051
- Pathogenic
- Gaucher disease type I; Gaucher disease type II; Gaucher disease type III
- Missense
- Variant Prioritization Score for Impact Estimate 0.659
- REVEL 0.71
- CADD 29.40
- PolyPhen-2 0.96
- SIFT 0.01
- ClinVar: Pathogenic (Gaucher disease type I; Gaucher disease type II; Gaucher disease)
- EBI: Pathogenic (in GD1)
- UniProt: Pathogenic (in GD1)
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- 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: Gaucher disease associated with a unique KpnI restriction site: identification of the amino-acid substitution. (PMID 1974409)