V182M (p.Val182Met) variant of KCNQ2 (O43526)
V182M (p.Val182Met) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Early-infantile DEE; Seizures, benign familial neonatal, 1; Developmental and ep. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
V182M (p.Val182Met) variant details
- p.Val182Met
- rs1085307920
- ClinGen CA409654914
- ClinVar RCV000489646
- ClinVar RCV004796195
- Likely pathogenic
- Early-infantile DEE; Seizures, benign familial neonatal, 1; Developmental and ep
- Missense
- Variant Prioritization Score for Impact Estimate 0.836
- REVEL 0.88
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Early-infantile DEE; Seizures, benign familial neonatal, 1; Deve)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- 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)