Y86F (p.Tyr86Phe) variant of GLA (Alpha-galactosidase A)
Y86F (p.Tyr86Phe) in GLA (Alpha-galactosidase A) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Fabry disease. The record also includes structural context.
Y86F (p.Tyr86Phe) variant details
- p.Tyr86Phe
- Ensembl rs1928408168
- Likely pathogenic
- Fabry disease
- Missense
- ClinVar: Likely pathogenic (Fabry disease)
- UniProt: Likely pathogenic (in FABRYD)
- Structural context available