R1393H (p.Arg1393His) variant of ABCC8 (Q09428)
R1393H (p.Arg1393His) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Hereditary hyperinsulinism; Leucine-induced hypoglycemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
R1393H (p.Arg1393His) variant details
- p.Arg1393His
- rs769279368
- ClinGen CA5902547
- ClinVar RCV000518373
- ClinVar RCV000671471
- Conflicting interpretations
- not provided; Hereditary hyperinsulinism; Leucine-induced hypoglycemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.857
- REVEL 0.88
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (not provided; Hereditary hyperinsulinism; Leucine-induced hypogl)
- EBI: Pathogenic (in HHF1)
- UniProt: Pathogenic (in HHF1)
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Genetic heterogeneity in familial hyperinsulinism. (PMID 9618169)
- Cited in: Functional analyses of novel mutations in the sulfonylurea receptor 1 associated with persistent hyperinsulinemic… (PMID 9648840)