T217I (p.Thr217Ile) variant of KCNQ2 (O43526)
T217I (p.Thr217Ile) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Developmental and epileptic encephalopathy, 7; Seizures, benign familial neonata. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
T217I (p.Thr217Ile) variant details
- p.Thr217Ile
- rs1057516090
- ClinGen CA409654718
- ClinVar RCV001004723
- ClinVar RCV001786424
- Pathogenic/Likely pathogenic
- Developmental and epileptic encephalopathy, 7; Seizures, benign familial neonata
- Missense
- Variant Prioritization Score for Impact Estimate 0.896
- AlphaMissense 0.98
- MetaLR 0.91
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.76
- ClinVar: Pathogenic/Likely pathogenic (Developmental and epileptic encephalopathy, 7; Seizures, benign)
- EBI: Pathogenic (in BFNS1)
- UniProt: Pathogenic (in BFNS1)
- 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)