L1543P (p.Leu1543Pro) variant of ABCC8 (Q09428)
L1543P (p.Leu1543Pro) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Diabetes mellitus, transient neonatal, 2; Type 2 diabetes mellitus; Hyperinsulin. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
L1543P (p.Leu1543Pro) variant details
- p.Leu1543Pro
- rs72559713
- ClinGen CA274017
- ClinVar RCV000169185
- ClinVar RCV000800626
- Pathogenic/Likely pathogenic
- Diabetes mellitus, transient neonatal, 2; Type 2 diabetes mellitus; Hyperinsulin
- Missense
- Variant Prioritization Score for Impact Estimate 0.808
- REVEL 0.92
- CADD 28.90
- PolyPhen-2 0.79
- SIFT 0.08
- ClinVar: Pathogenic/Likely pathogenic (Diabetes mellitus, transient neonatal, 2; Type 2 diabetes mellit)
- EBI: Pathogenic (in HHF1)
- UniProt: Pathogenic (in HHF1)
- Most common in the African/African-American population (allele frequency 3.1e-05)
- Structural context available
- Cited in: Identification of a familial hyperinsulinism-causing mutation in the sulfonylurea receptor 1 that prevents normal… (PMID 11867634)
- Cited in: Permanent Neonatal Diabetes Mellitus. (PMID 20301620)