R192H (p.Arg192His) variant of KCNJ11 (Q14654)
R192H (p.Arg192His) in KCNJ11 (Q14654) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Diabetes mellitus, transient neonatal, 3; Diabetes mellitus, permanent neonatal. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
R192H (p.Arg192His) variant details
- p.Arg192His
- rs750778014
- ClinGen CA5902279
- cosmic curated COSV60595
- ClinVar RCV002271555
- Conflicting interpretations
- Diabetes mellitus, transient neonatal, 3; Diabetes mellitus, permanent neonatal
- Missense
- Variant Prioritization Score for Impact Estimate 0.836
- REVEL 0.94
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Diabetes mellitus, transient neonatal, 3; Diabetes mellitus, per)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Permanent Neonatal Diabetes Mellitus. (PMID 20301620)
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)