T234A (p.Thr234Ala) variant of KCNQ2 (O43526)
T234A (p.Thr234Ala) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Seizures, benign familial neonatal, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
T234A (p.Thr234Ala) variant details
- p.Thr234Ala
- rs1057516091
- ClinGen CA409654076
- ClinVar RCV002250065
- Ensembl rs1057516091
- Pathogenic
- Seizures, benign familial neonatal, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.837
- AlphaMissense 0.98
- MetaLR 0.93
- MetaSVM 1.04
- PolyPhen-2 0.00
- SIFT 0.00
- EVE 0.75
- ClinVar: Pathogenic (Seizures, benign familial neonatal, 1)
- EBI: Pathogenic (in DEE7)
- UniProt: Pathogenic (in DEE7)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)
- Cited in: KCNQ2-Related Disorders. (PMID 20437616)