T133A (p.Thr133Ala) variant of KCNQ2 (O43526)
T133A (p.Thr133Ala) 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 record also includes structural context.
T133A (p.Thr133Ala) variant details
- p.Thr133Ala
- rs2516512869
- ClinGen CA409655612
- ClinVar RCV006471545
- Uncertain significance
- Early-infantile DEE
- Missense
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available