M72V (p.Met72Val) variant of GLA (Alpha-galactosidase A)
M72V (p.Met72Val) in GLA (Alpha-galactosidase A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Fabry disease. The record also includes published literature and structural context.
M72V (p.Met72Val) variant details
- p.Met72Val
- UniProt VAR 000442
- Likely pathogenic
- Fabry disease
- Missense
- ClinVar: Likely pathogenic (Fabry disease)
- EBI: Pathogenic (in FABRYD)
- UniProt: Pathogenic (in FABRYD)
- Structural context available
- Cited in: Screening and detection of gene mutations in Japanese patients with Fabry disease by non-radioactive single-stranded… (PMID 9105656)
- Cited in: Novel missense mutation (M72V) of alpha-galactosidase gene and its expression product in an atypical Fabry hemizygote. (PMID 9452090)