R34C (p.Arg34Cys) variant of KCNJ11 (Q14654)
R34C (p.Arg34Cys) 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; Monogenic diabetes; Permanent neonatal diabetes mellit. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
R34C (p.Arg34Cys) variant details
- p.Arg34Cys
- rs954727530
- ClinGen CA218400169
- ClinVar RCV001855597
- ClinVar RCV002225111
- Pathogenic/Likely pathogenic
- Familial hyperinsulinism; Monogenic diabetes; Permanent neonatal diabetes mellit
- Missense
- Variant Prioritization Score for Impact Estimate 0.891
- REVEL 0.94
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Familial hyperinsulinism; Monogenic diabetes; Permanent neonatal)
- EBI: Pathogenic (in HHF2)
- UniProt: Pathogenic (in HHF2)
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)
- Cited in: Permanent Neonatal Diabetes Mellitus. (PMID 20301620)