L312F (p.Leu312Phe) variant of KCNQ2 (O43526)
L312F (p.Leu312Phe) 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 0.89 / 1. The record also includes published literature and structural context.
L312F (p.Leu312Phe) variant details
- p.Leu312Phe
- rs2145712758
- ClinGen CA409652325
- ClinVar RCV001800252
- Ensembl rs2145712758
- Likely pathogenic
- Seizures, benign familial neonatal, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.891
- AlphaMissense 0.99
- MetaLR 0.93
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.75
- ClinVar: Likely pathogenic (Seizures, benign familial neonatal, 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)