T114S (p.Thr114Ser) variant of KCNQ2 (O43526)
T114S (p.Thr114Ser) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes structural context.
T114S (p.Thr114Ser) variant details
- p.Thr114Ser
- rs1057516077
- ClinGen CA409656456
- ClinVar RCV006465950
- Ensembl rs1057516077
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.887
- AlphaMissense 0.99
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.71
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Likely pathogenic (in BFNS1)
- UniProt: Likely pathogenic (in BFNS1)
- Structural context available