L206P (p.Leu206Pro) variant of KCNQ2 (O43526)
L206P (p.Leu206Pro) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Seizures, benign familial neonatal, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
L206P (p.Leu206Pro) variant details
- p.Leu206Pro
- rs1339542565
- ClinGen CA409654775
- ClinVar RCV000990337
- gnomAD rs1339542565
- Likely pathogenic
- Seizures, benign familial neonatal, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.83
- REVEL 0.92
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.09
- CADD 27.60
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (Seizures, benign familial neonatal, 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)
- Cited in: KCNQ2-Related Disorders. (PMID 20437616)