A381V (p.Ala381Val) variant of KCNQ3 (O43525)
A381V (p.Ala381Val) in KCNQ3 (O43525) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Self-limited epilepsy with centrotemporal spikes. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes published literature and structural context.
A381V (p.Ala381Val) variant details
- p.Ala381Val
- rs1554626549
- ClinGen CA372289792
- ClinVar RCV000656019
- ClinVar RCV001814169
- Pathogenic
- Self-limited epilepsy with centrotemporal spikes
- Missense
- Variant Prioritization Score for Impact Estimate 0.771
- AlphaMissense 0.83
- MetaLR 0.92
- MetaSVM 1.03
- PolyPhen-2 0.80
- SIFT 0.03
- EVE 0.30
- ClinVar: Pathogenic (Self-limited epilepsy with centrotemporal spikes)
- 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: KCNQ3-Related Disorders. (PMID 24851285)