L1565P (p.Leu1565Pro) variant of ABCC8 (Q09428)
L1565P (p.Leu1565Pro) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic/likely pathogenic in the context of Diabetes mellitus, transient neonatal, 2; Type 2 diabetes mellitus; Hyperinsulin. The record also includes structural context.
L1565P (p.Leu1565Pro) variant details
- p.Leu1565Pro
- cosmic curated COSV56852
- Pathogenic/Likely pathogenic
- Diabetes mellitus, transient neonatal, 2; Type 2 diabetes mellitus; Hyperinsulin
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Diabetes mellitus, transient neonatal, 2; Type 2 diabetes mellit)
- UniProt: Likely pathogenic
- Structural context available