R364C (p.Arg364Cys) variant of KCNQ3 (O43525)
R364C (p.Arg364Cys) in KCNQ3 (O43525) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Benign neonatal seizures. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
R364C (p.Arg364Cys) variant details
- p.Arg364Cys
- rs1459374430
- ClinGen CA372289929
- ClinVar RCV000813464
- ClinVar RCV003389832
- Pathogenic
- Benign neonatal seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.871
- REVEL 0.87
- MetaLR 0.98
- MetaSVM 1.06
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Benign neonatal seizures)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)