A390E (p.Ala390Glu) variant of ABCC8 (Q09428)
A390E (p.Ala390Glu) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Hereditary hyperinsulinism. The record also includes structural context.
A390E (p.Ala390Glu) variant details
- p.Ala390Glu
- 1000Genomes rs1956872429
- Likely pathogenic
- Hereditary hyperinsulinism
- Missense
- ClinVar: Likely pathogenic (Hereditary hyperinsulinism)
- UniProt: Likely pathogenic
- Structural context available