T114A (p.Thr114Ala) variant of KCNQ2 (O43526)
T114A (p.Thr114Ala) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
T114A (p.Thr114Ala) variant details
- p.Thr114Ala
- rs1057516076
- ClinGen CA10654835
- ClinVar RCV000678116
- ClinVar RCV006555877
- Pathogenic
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.889
- AlphaMissense 0.97
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.74
- ClinVar: Pathogenic (Early-infantile DEE)
- EBI: Pathogenic (in BFNS1)
- UniProt: Pathogenic (in BFNS1)
- Structural context available
- Cited in: Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome. (PMID 25982755)
- Cited in: Benign familial neonatal convulsions (BFNC) resulting from mutation of the KCNQ2 voltage sensor. (PMID 11175290)