I317T (p.Ile317Thr) variant of KCNQ3 (O43525)
I317T (p.Ile317Thr) in KCNQ3 (O43525) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of KCNQ3-related disorder; Benign neonatal seizures; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
I317T (p.Ile317Thr) variant details
- p.Ile317Thr
- rs1586800133
- ClinGen CA372290246
- ClinVar RCV000818357
- ClinVar RCV000853346
- Pathogenic/Likely pathogenic
- KCNQ3-related disorder; Benign neonatal seizures; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.837
- AlphaMissense 0.95
- MetaLR 0.93
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.52
- ClinVar: Pathogenic/Likely pathogenic (KCNQ3-related disorder; Benign neonatal seizures; not provided)
- 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)