R398Q (p.Arg398Gln) variant of GBA1 (P04062)
R398Q (p.Arg398Gln) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
R398Q (p.Arg398Gln) variant details
- p.Arg398Gln
- rs74979486
- ClinGen CA30894764
- ClinVar RCV003479907
- ClinVar RCV003482466
- Pathogenic/Likely pathogenic
- Gaucher disease; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.83
- REVEL 0.93
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Gaucher disease; not provided)
- EBI: Pathogenic (in GD1)
- UniProt: Pathogenic (in GD1)
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available
- Cited in: Rapid identification of mutations in the glucocerebrosidase gene of Gaucher disease patients by analysis of… (PMID 1487244)
- Cited in: Two novel (1098insA and Y313H) and one rare (R359Q) mutations detected in exon 8 of the beta-glucocerebrosidase gene in… (PMID 8829663)