R87Q (p.Arg87Gln) variant of GBA1 (P04062)
R87Q (p.Arg87Gln) in GBA1 (P04062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Gaucher disease; Gaucher disease type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
R87Q (p.Arg87Gln) variant details
- p.Arg87Gln
- rs78769774
- ClinGen CA30896518
- ClinVar RCV003230935
- ClinVar RCV003988098
- Pathogenic
- Gaucher disease; Gaucher disease type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.793
- REVEL 0.79
- CADD 27.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Gaucher disease; Gaucher disease type I)
- EBI: Pathogenic (in GD1)
- UniProt: Pathogenic (in GD1)
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available
- Cited in: Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations. (PMID 16293621)
- Cited in: Gaucher disease: Biochemical and molecular findings in 141 patients diagnosed in Greece. (PMID 32547927)