G111R (p.Gly111Arg) variant of ABCC8 (Q09428)
G111R (p.Gly111Arg) 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 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
G111R (p.Gly111Arg) variant details
- p.Gly111Arg
- rs761749884
- ClinGen CA277230
- ClinVar RCV000193936
- ClinVar RCV001068772
- Pathogenic/Likely pathogenic
- Diabetes mellitus, transient neonatal, 2; Type 2 diabetes mellitus; Hyperinsulin
- Missense
- Variant Prioritization Score for Impact Estimate 0.64
- REVEL 0.64
- CADD 21.80
- PolyPhen-2 0.65
- SIFT 0.13
- 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 South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity. (PMID 15579781)
- Cited in: Mutation spectra of ABCC8 gene in Spanish patients with Hyperinsulinism of Infancy (HI). (PMID 16429405)