R301H (p.Arg301His) variant of KCNJ11 (Q14654)
R301H (p.Arg301His) in KCNJ11 (Q14654) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Diabetes mellitus, permanent neonatal 2; Maturity-onset diabetes of the young ty. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
R301H (p.Arg301His) variant details
- p.Arg301His
- rs74339576
- ClinGen CA254524
- ClinVar RCV000009220
- ClinVar RCV001224980
- Pathogenic/Likely pathogenic
- Diabetes mellitus, permanent neonatal 2; Maturity-onset diabetes of the young ty
- Missense
- Variant Prioritization Score for Impact Estimate 0.915
- REVEL 0.97
- AlphaMissense 0.84
- MetaLR 0.94
- MetaSVM 1.09
- CADD 29.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Diabetes mellitus, permanent neonatal 2; Maturity-onset diabetes)
- EBI: Pathogenic (in HHF2)
- UniProt: Pathogenic (in HHF2)
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine… (PMID 15562009)
- Cited in: Molecular and immunohistochemical analyses of the focal form of congenital hyperinsulinism. (PMID 16357843)