R1436Q (p.Arg1436Gln) variant of ABCC8 (Q09428)
R1436Q (p.Arg1436Gln) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hereditary hyperinsulinism; not provided; Familial hyperinsulinism. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes population frequency data, published literature, and structural context.
R1436Q (p.Arg1436Gln) variant details
- p.Arg1436Gln
- rs387906407
- ClinGen CA254627
- ClinVar RCV000009654
- ClinVar RCV001040039
- Pathogenic
- Hereditary hyperinsulinism; not provided; Familial hyperinsulinism
- Missense
- Variant Prioritization Score for Impact Estimate 0.935
- REVEL 0.98
- CADD 37.00
- PolyPhen-2 0.96
- SIFT 0.02
- ClinVar: Pathogenic (Hereditary hyperinsulinism; not provided; Familial hyperinsulini)
- EBI: Pathogenic (in HHF1)
- UniProt: Pathogenic (in HHF1)
- Population evidence available
- Structural context available
- Cited in: Genetic analysis of Japanese patients with persistent hyperinsulinemic hypoglycemia of infancy: nucleotide-binding… (PMID 10615958)
- Cited in: Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy. (PMID 7716548)