A59V (p.Ala59Val) variant of KCNQ2 (O43526)
A59V (p.Ala59Val) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Early-infantile DEE. The record also includes structural context.
A59V (p.Ala59Val) variant details
- p.Ala59Val
- rs2516744883
- ClinGen CA409635308
- ClinVar RCV004765936
- ClinVar RCV006563053
- Uncertain significance
- not provided; Early-infantile DEE
- Missense
- ClinVar: Uncertain significance (not provided; Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available