F300S (p.Phe300Ser) variant of KCNQ3 (O43525)
F300S (p.Phe300Ser) in KCNQ3 (O43525) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Seizures, benign familial neonatal, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
F300S (p.Phe300Ser) variant details
- p.Phe300Ser
- rs1554627439
- ClinGen CA372290365
- ClinVar RCV000585872
- Ensembl rs1554627439
- Likely pathogenic
- Seizures, benign familial neonatal, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.927
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.75
- ClinVar: Likely pathogenic (Seizures, benign familial neonatal, 2)
- 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: KCNQ3-Related Disorders. (PMID 24851285)