W91R (p.Trp91Arg) variant of KCNJ11 (Q14654)
W91R (p.Trp91Arg) in KCNJ11 (Q14654) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Hyperinsulinemic hypoglycemia, familial, 2. The record also includes published literature and structural context.
W91R (p.Trp91Arg) variant details
- p.Trp91Arg
- rs2496411563
- ClinGen CA379774937
- ClinVar RCV003062334
- UniProt VAR 026507
- Likely pathogenic
- not provided; Hyperinsulinemic hypoglycemia, familial, 2
- Missense
- ClinVar: Likely pathogenic (not provided; Hyperinsulinemic hypoglycemia, familial, 2)
- EBI: Pathogenic (in HHF2)
- UniProt: Pathogenic (in HHF2)
- Structural context available
- Cited in: Molecular biology of adenosine triphosphate-sensitive potassium channels. (PMID 10204114)
- Cited in: Acute insulin response tests for the differential diagnosis of congenital hyperinsulinism. (PMID 12364426)