L129V (p.Leu129Val) variant of KCNQ2 (O43526)
L129V (p.Leu129Val) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
L129V (p.Leu129Val) variant details
- p.Leu129Val
- rs1381622639
- ClinGen CA409656296
- ClinVar RCV001786545
- ClinVar RCV006467963
- Conflicting interpretations
- Early-infantile DEE; Seizures, benign familial neonatal, 1; Developmental and ep
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- CADD 11.60
- ClinVar: Conflicting classifications of pathogenicity (Early-infantile DEE; Seizures, benign familial neonatal, 1; Deve)
- EBI: Likely pathogenic
- UniProt: Likely 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)