G85E (p.Gly85Glu) variant of GBA1 (P04062)
G85E (p.Gly85Glu) in GBA1 (P04062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Gaucher disease. 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.
G85E (p.Gly85Glu) variant details
- p.Gly85Glu
- rs77829017
- ClinGen CA253063
- ClinVar RCV000004532
- ClinVar RCV000781409
- Pathogenic
- not provided; Gaucher disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.829
- REVEL 0.87
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Gaucher disease)
- EBI: Pathogenic (in GD)
- UniProt: Pathogenic (in GD)
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available
- Cited in: Gaucher disease: identification of three new mutations in the Korean and Chinese (Taiwanese) populations. (PMID 8829654)
- Cited in: Identification of two novel and four uncommon missense mutations among chinese Gaucher disease patients. (PMID 9217217)