R34G (p.Arg34Gly) variant of KCNJ11 (Q14654)
R34G (p.Arg34Gly) in KCNJ11 (Q14654) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hyperinsulinemic hypoglycemia, familial, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
R34G (p.Arg34Gly) variant details
- p.Arg34Gly
- TOPMed rs954727530
- gnomAD rs954727530
- Likely pathogenic
- Hyperinsulinemic hypoglycemia, familial, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.872
- REVEL 0.93
- CADD 28.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Hyperinsulinemic hypoglycemia, familial, 2)
- EBI: Pathogenic (in HHF2)
- UniProt: Pathogenic (in HHF2)
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available