A9T (p.Ala9Thr) variant of KCNA2 (P16389)
A9T (p.Ala9Thr) in KCNA2 (P16389) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Developmental and epileptic encephalopathy, 32. The record also includes structural context.
A9T (p.Ala9Thr) variant details
- p.Ala9Thr
- TOPMed rs1193386226
- Uncertain significance
- Developmental and epileptic encephalopathy, 32
- Missense
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 32)
- UniProt: Uncertain significance
- Structural context available