R54H (p.Arg54His) variant of KCNJ11 (Q14654)
R54H (p.Arg54His) in KCNJ11 (Q14654) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hyperinsulinemic hypoglycemia; Hyperinsulinemic hypoglycemia, familial, 2; not p. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
R54H (p.Arg54His) variant details
- p.Arg54His
- rs587783666
- ClinGen CA271562
- ClinVar RCV000146103
- ClinVar RCV002227072
- Conflicting interpretations
- Hyperinsulinemic hypoglycemia; Hyperinsulinemic hypoglycemia, familial, 2; not p
- Missense
- Variant Prioritization Score for Impact Estimate 0.897
- REVEL 0.96
- CADD 28.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Hyperinsulinemic hypoglycemia; Hyperinsulinemic hypoglycemia, fa)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)