T349P (p.Thr349Pro) variant of KCNQ2 (O43526)
T349P (p.Thr349Pro) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Seizures, benign familial neonatal, 1; Developmental and epileptic encephalopath. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
T349P (p.Thr349Pro) variant details
- p.Thr349Pro
- rs2145680256
- ClinGen CA409651227
- ClinVar RCV001786539
- Ensembl rs2145680256
- Likely pathogenic
- Seizures, benign familial neonatal, 1; Developmental and epileptic encephalopath
- Missense
- Variant Prioritization Score for Impact Estimate 0.88
- AlphaMissense 0.98
- MetaLR 0.97
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.71
- ClinVar: Likely pathogenic (Seizures, benign familial neonatal, 1; Developmental and epilept)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: KCNQ2-Related Disorders. (PMID 20437616)
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)