R16C (p.Arg16Cys) variant of KCNJ11 (Q14654)
R16C (p.Arg16Cys) in KCNJ11 (Q14654) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Diabetes mellitus, transient neonatal, 3; Hyperinsulinemic hypoglycemia, familia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
R16C (p.Arg16Cys) variant details
- p.Arg16Cys
- ExAC rs778405781
- TOPMed rs778405781
- gnomAD rs778405781
- Uncertain significance
- Diabetes mellitus, transient neonatal, 3; Hyperinsulinemic hypoglycemia, familia
- Missense
- Variant Prioritization Score for Impact Estimate 0.604
- REVEL 0.63
- CADD 28.40
- PolyPhen-2 0.79
- SIFT 0.00
- ClinVar: Uncertain significance (Diabetes mellitus, transient neonatal, 3; Hyperinsulinemic hypog)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available