L107F (p.Leu107Phe) variant of KCNQ2 (O43526)
L107F (p.Leu107Phe) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
L107F (p.Leu107Phe) variant details
- p.Leu107Phe
- rs864321712
- ClinGen CA347947
- ClinVar RCV000203587
- ClinVar RCV006462088
- Pathogenic
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.899
- AlphaMissense 0.98
- MetaLR 0.96
- MetaSVM 1.08
- PolyPhen-2 0.96
- SIFT 0.00
- EVE 0.73
- ClinVar: Pathogenic (Early-infantile DEE)
- EBI: Pathogenic
- UniProt: 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)