R364H (p.Arg364His) variant of KCNQ3 (O43525)
R364H (p.Arg364His) in KCNQ3 (O43525) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Benign neonatal seizures; Seizures, benign familial neonatal, 2; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
R364H (p.Arg364His) variant details
- p.Arg364His
- rs1204519015
- ClinGen CA372289928
- cosmic curated COSV66478
- ClinVar RCV001203500
- Pathogenic/Likely pathogenic
- Benign neonatal seizures; Seizures, benign familial neonatal, 2; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.915
- REVEL 0.97
- MetaLR 0.98
- MetaSVM 1.06
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Benign neonatal seizures; Seizures, benign familial neonatal, 2;)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- 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)