A356T (p.Ala356Thr) variant of KCNQ3 (O43525)
A356T (p.Ala356Thr) 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 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
A356T (p.Ala356Thr) variant details
- p.Ala356Thr
- rs2130121430
- ClinGen CA372289988
- ClinVar RCV001771817
- Ensembl rs2130121430
- Likely pathogenic
- Seizures, benign familial neonatal, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.888
- REVEL 0.93
- MetaLR 0.95
- MetaSVM 1.10
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Seizures, benign familial neonatal, 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- 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)