R392W (p.Arg392Trp) variant of GBA1 (P04062)
R392W (p.Arg392Trp) 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 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
R392W (p.Arg392Trp) variant details
- p.Arg392Trp
- rs121908308
- ClinGen CA342715091
- cosmic curated COSV10589
- ClinVar RCV001004118
- Pathogenic/Likely pathogenic
- Gaucher disease type I; Gaucher disease type II; Gaucher disease type III
- Missense
- Variant Prioritization Score for Impact Estimate 0.736
- REVEL 0.79
- AlphaMissense 0.38
- MetaLR 0.91
- MetaSVM 0.91
- CADD 29.30
- PolyPhen-2 0.85
- ClinVar: Pathogenic/Likely pathogenic (Gaucher disease type I; Gaucher disease type II; Gaucher disease)
- EBI: Pathogenic (in GD)
- UniProt: Pathogenic (in GD)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations. (PMID 16293621)
- Cited in: Is the perinatal lethal form of Gaucher disease more common than classic type 2 Gaucher disease? (PMID 10352942)