R136H (p.Arg136His) variant of KCNJ11 (Q14654)
R136H (p.Arg136His) in KCNJ11 (Q14654) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Familial hyperinsulinism; Type 2 diabetes mellitus; Diabetes mellitus, transient. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
R136H (p.Arg136His) variant details
- p.Arg136His
- rs1479483693
- ClinGen CA379773972
- NCI-TCGA Cosmic COSV6059
- cosmic curated COSV60594
- Conflicting interpretations
- Familial hyperinsulinism; Type 2 diabetes mellitus; Diabetes mellitus, transient
- Missense
- Variant Prioritization Score for Impact Estimate 0.906
- REVEL 0.98
- CADD 27.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Familial hyperinsulinism; Type 2 diabetes mellitus; Diabetes mel)
- EBI: Pathogenic (in HHF2)
- UniProt: Pathogenic (in HHF2)
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available
- Cited in: Permanent Neonatal Diabetes Mellitus. (PMID 20301620)
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)