K38E (p.Lys38Glu) variant of KCNJ11 (Q14654)
K38E (p.Lys38Glu) in KCNJ11 (Q14654) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Hyperinsulinemic hypoglycemia, familial, 2. The record also includes published literature and structural context.
K38E (p.Lys38Glu) variant details
- p.Lys38Glu
- rs2496412209
- ClinGen CA379776881
- ClinVar RCV003228205
- ClinVar RCV005414682
- Conflicting interpretations
- not provided; Hyperinsulinemic hypoglycemia, familial, 2
- Missense
- ClinVar: Conflicting classifications of pathogenicity (not provided; Hyperinsulinemic hypoglycemia, familial, 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)