A1514T (p.Ala1514Thr) variant of ABCC8 (Q09428)
A1514T (p.Ala1514Thr) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic/likely pathogenic in the context of Familial hyperinsulinism; not provided. The record also includes structural context.
A1514T (p.Ala1514Thr) variant details
- p.Ala1514Thr
- NCI-TCGA TCGA novel
- Pathogenic/Likely pathogenic
- Familial hyperinsulinism; not provided
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Familial hyperinsulinism; not provided)
- UniProt: Likely pathogenic
- Structural context available