F76V (p.Phe76Val) variant of GBA1 (P04062)
F76V (p.Phe76Val) in GBA1 (P04062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Gaucher disease; not specified. The record also includes published literature and structural context.
F76V (p.Phe76Val) variant details
- p.Phe76Val
- UniProt VAR 003256
- Conflicting interpretations
- Gaucher disease; not specified
- Missense
- ClinVar: Conflicting classifications of pathogenicity (Gaucher disease; not specified)
- EBI: Pathogenic (in GD)
- UniProt: Pathogenic (in GD)
- Structural context available
- Cited in: Identification of two novel and four uncommon missense mutations among chinese Gaucher disease patients. (PMID 9217217)
- Cited in: Is the perinatal lethal form of Gaucher disease more common than classic type 2 Gaucher disease? (PMID 10352942)