R301G (p.Arg301Gly) variant of KCNJ11 (Q14654)
R301G (p.Arg301Gly) in KCNJ11 (Q14654) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Familial hyperinsulinism. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
R301G (p.Arg301Gly) variant details
- p.Arg301Gly
- rs377091338
- ClinGen CA379770021
- ClinVar RCV002019901
- ClinVar RCV005925571
- Pathogenic/Likely pathogenic
- not provided; Familial hyperinsulinism
- Missense
- Variant Prioritization Score for Impact Estimate 0.877
- REVEL 0.95
- CADD 28.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Familial hyperinsulinism)
- EBI: Pathogenic (in HHF2)
- UniProt: Pathogenic (in HHF2)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)