Q188K (p.Gln188Lys) variant of KCNQ2 (O43526)
Q188K (p.Gln188Lys) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Developmental and epileptic encephalopathy, 7; Seizures, benign familial neonata. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes published literature and structural context.
Q188K (p.Gln188Lys) variant details
- p.Gln188Lys
- rs2081363302
- ClinGen CA409654878
- ClinVar RCV001257438
- Ensembl rs2081363302
- Likely pathogenic
- Developmental and epileptic encephalopathy, 7; Seizures, benign familial neonata
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- AlphaMissense 0.57
- MetaLR 0.93
- MetaSVM 1.00
- PolyPhen-2 0.96
- SIFT 0.00
- EVE 0.68
- ClinVar: Likely pathogenic (Developmental and epileptic encephalopathy, 7; Seizures, benign)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: KCNQ2-Related Disorders. (PMID 20437616)
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)