G364R (p.Gly364Arg) variant of GBA1 (P04062)
G364R (p.Gly364Arg) in GBA1 (P04062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
G364R (p.Gly364Arg) variant details
- p.Gly364Arg
- rs121908305
- ClinGen CA221381
- ClinVar RCV000004562
- ClinVar RCV000180535
- Likely pathogenic
- Gaucher disease type I; Gaucher disease type II; Gaucher disease type III
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- REVEL 0.59
- CADD 18.10
- PolyPhen-2 0.03
- SIFT 0.44
- ClinVar: Likely pathogenic (Gaucher disease)
- EBI: Pathogenic (in GD2)
- UniProt: Pathogenic (in GD2)
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available
- Cited in: Prevalent and rare mutations among Gaucher patients. (PMID 2269438)
- Cited in: A novel transcript from a pseudogene for human glucocerebrosidase in non-Gaucher disease cells. (PMID 8294033)