R1418H (p.Arg1418His) variant of ABCC8 (Q09428)
R1418H (p.Arg1418His) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Type 2 diabetes mellitus; Hereditary hyperinsulinism; Diabetes mellitus, transie. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
R1418H (p.Arg1418His) variant details
- p.Arg1418His
- rs1446306735
- ClinGen CA379786705
- NCI-TCGA Cosmic COSV1002
- cosmic curated COSV10021
- Pathogenic/Likely pathogenic
- Type 2 diabetes mellitus; Hereditary hyperinsulinism; Diabetes mellitus, transie
- Missense
- Variant Prioritization Score for Impact Estimate 0.908
- REVEL 0.96
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Type 2 diabetes mellitus; Hereditary hyperinsulinism; Diabetes m)
- EBI: Pathogenic (in HHF1)
- UniProt: Pathogenic (in HHF1)
- Most common in the South Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity. (PMID 15579781)
- Cited in: Alternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: an unusual clinical… (PMID 25720052)