V132M (p.Val132Met) variant of KCNQ2 (O43526)
V132M (p.Val132Met) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/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 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
V132M (p.Val132Met) variant details
- p.Val132Met
- rs1600789325
- ClinGen CA409655627
- ClinVar RCV001092638
- ClinVar RCV001786432
- Pathogenic/Likely pathogenic
- Developmental and epileptic encephalopathy, 7; Seizures, benign familial neonata
- Missense
- Variant Prioritization Score for Impact Estimate 0.764
- REVEL 0.77
- AlphaMissense 0.62
- MetaLR 0.90
- MetaSVM 0.85
- CADD 24.50
- PolyPhen-2 0.74
- ClinVar: Pathogenic/Likely pathogenic (Developmental and epileptic encephalopathy, 7; Seizures, benign)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Middle Eastern population (allele frequency 0.0011)
- 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)