K67N (p.Lys67Asn) variant of KCNJ11 (Q14654)
K67N (p.Lys67Asn) in KCNJ11 (Q14654) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in HHF2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
K67N (p.Lys67Asn) variant details
- p.Lys67Asn
- rs747719667
- UniProt VAR 026506
- ExAC rs747719667
- gnomAD rs747719667
- Pathogenic
- in HHF2
- Missense
- Variant Prioritization Score for Impact Estimate 0.618
- REVEL 0.81
- CADD 23.80
- PolyPhen-2 1.00
- SIFT 0.04
- EBI: Pathogenic (in HHF2)
- UniProt: Pathogenic (in HHF2)
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00024)
- Structural context available
- Cited in: Acute insulin response tests for the differential diagnosis of congenital hyperinsulinism. (PMID 12364426)
- Cited in: Molecular biology of adenosine triphosphate-sensitive potassium channels. (PMID 10204114)