R301C (p.Arg301Cys) variant of KCNJ11 (Q14654)
R301C (p.Arg301Cys) 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; not provided; Diabetes mellitus, transient neonatal, 3. 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.
R301C (p.Arg301Cys) variant details
- p.Arg301Cys
- rs377091338
- ClinGen CA5902226
- ClinVar RCV000795944
- ClinVar RCV002227218
- Conflicting interpretations
- Familial hyperinsulinism; not provided; Diabetes mellitus, transient neonatal, 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.89
- REVEL 0.94
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Familial hyperinsulinism; not provided; Diabetes mellitus, trans)
- 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)