T35S (p.Thr35Ser) variant of KCNQ2 (O43526)
T35S (p.Thr35Ser) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Early-infantile DEE; Developmental and epileptic encephalopathy, 7; Seizures, be. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
T35S (p.Thr35Ser) variant details
- p.Thr35Ser
- rs984632499
- ClinGen CA409635714
- ClinVar RCV002265991
- ClinVar RCV006466776
- Uncertain significance
- Early-infantile DEE; Developmental and epileptic encephalopathy, 7; Seizures, be
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.32
- CADD 15.60
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Early-infantile DEE; Developmental and epileptic encephalopathy,)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:IBS population (allele frequency 0.017)
- 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)