A52V (p.Ala52Val) variant of KCNA2 (P16389)
A52V (p.Ala52Val) in KCNA2 (P16389) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Developmental and epileptic encephalopathy, 32. The record also includes structural context.
A52V (p.Ala52Val) variant details
- p.Ala52Val
- rs2524623311
- ClinGen CA341606606
- ClinVar RCV003753560
- Uncertain significance
- Developmental and epileptic encephalopathy, 32
- Missense
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 32)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available