R136C (p.Arg136Cys) variant of KCNJ11 (Q14654)
R136C (p.Arg136Cys) in KCNJ11 (Q14654) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic 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 0.93 / 1. The record also includes population frequency data, published literature, and structural context.
R136C (p.Arg136Cys) variant details
- p.Arg136Cys
- rs766891274
- ClinGen CA5902293
- ClinVar RCV000503978
- ClinVar RCV002481620
- Pathogenic/Likely pathogenic
- Type 2 diabetes mellitus; Diabetes mellitus, transient neonatal, 3; Hyperinsulin
- Missense
- Variant Prioritization Score for Impact Estimate 0.933
- REVEL 0.98
- AlphaMissense 0.90
- MetaLR 0.96
- MetaSVM 1.10
- CADD 32.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Type 2 diabetes mellitus; Diabetes mellitus, transient neonatal,)
- EBI: Pathogenic (in HHF2)
- UniProt: Pathogenic (in HHF2)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Permanent Neonatal Diabetes Mellitus. (PMID 20301620)
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)