R34H (p.Arg34His) variant of KCNJ11 (Q14654)
R34H (p.Arg34His) in KCNJ11 (Q14654) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hyperinsulinemic hypoglycemia, familial, 2; Permanent neonatal diabetes mellitus. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
R34H (p.Arg34His) variant details
- p.Arg34His
- rs141145502
- ClinGen CA218400168
- ClinVar RCV001588331
- ClinVar RCV001832822
- Pathogenic/Likely pathogenic
- Hyperinsulinemic hypoglycemia, familial, 2; Permanent neonatal diabetes mellitus
- Missense
- Variant Prioritization Score for Impact Estimate 0.895
- REVEL 0.96
- CADD 27.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Hyperinsulinemic hypoglycemia, familial, 2; Permanent neonatal d)
- EBI: Pathogenic (in HHF2)
- UniProt: Pathogenic (in HHF2)
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: Genotypes of the pancreatic beta-cell K-ATP channel and clinical phenotypes of Japanese patients with persistent… (PMID 15807877)
- Cited in: Permanent Neonatal Diabetes Mellitus. (PMID 20301620)