R136L (p.Arg136Leu) variant of KCNJ11 (Q14654)
R136L (p.Arg136Leu) in KCNJ11 (Q14654) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Familial hyperinsulinism; Permanent neonatal diabetes mellitus; not provided. 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.
R136L (p.Arg136Leu) variant details
- p.Arg136Leu
- rs1479483693
- ClinGen CA379773968
- ClinVar RCV002005862
- ClinVar RCV005238142
- Pathogenic/Likely pathogenic
- Familial hyperinsulinism; Permanent neonatal diabetes mellitus; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.905
- REVEL 0.98
- CADD 27.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Familial hyperinsulinism; Permanent neonatal diabetes mellitus;)
- EBI: Pathogenic (in HHF2)
- UniProt: Pathogenic (in HHF2)
- Most common in the Latino/Admixed American population (allele frequency 4.5e-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)