R16H (p.Arg16His) variant of KCNJ11 (Q14654)
R16H (p.Arg16His) in KCNJ11 (Q14654) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Type 2 diabetes mellitus; Diabetes mellitus, transient neonatal, 3; Hyperinsulin. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
R16H (p.Arg16His) variant details
- p.Arg16His
- rs770609243
- ClinGen CA5902342
- ClinVar RCV000509563
- ClinVar RCV002226712
- Uncertain significance
- Type 2 diabetes mellitus; Diabetes mellitus, transient neonatal, 3; Hyperinsulin
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- REVEL 0.52
- CADD 24.50
- PolyPhen-2 0.79
- SIFT 0.06
- ClinVar: Uncertain significance (Type 2 diabetes mellitus; Diabetes mellitus, transient neonatal,)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: Permanent Neonatal Diabetes Mellitus. (PMID 20301620)
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)