G50V (p.Gly50Val) variant of APOA1 (Apolipoprotein A-I)
G50V (p.Gly50Val) in APOA1 (Apolipoprotein A-I) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial amyloid polyneuropathy, Iowa type; Hypoalphalipoproteinemia, primary, 2. The record also includes structural context.
G50V (p.Gly50Val) variant details
- p.Gly50Val
- gnomAD rs1333457474
- Uncertain significance
- Familial amyloid polyneuropathy, Iowa type; Hypoalphalipoproteinemia, primary, 2
- Missense
- ClinVar: Uncertain significance (Familial amyloid polyneuropathy, Iowa type; Hypoalphalipoprotein)
- EBI: Variant of uncertain significance (in AMYLD3)
- UniProt: Uncertain significance (in AMYLD3)
- Structural context available