G396R (p.Gly396Arg) variant of KCNA1 (Q09470)
G396R (p.Gly396Arg) in KCNA1 (Q09470) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Generalized epilepsy-paroxysmal dyskinesia syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes structural context.
G396R (p.Gly396Arg) variant details
- p.Gly396Arg
- rs2137673957
- ClinGen CA383456232
- ClinVar RCV001449665
- Ensembl rs2137673957
- Likely pathogenic
- Generalized epilepsy-paroxysmal dyskinesia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.772
- MutPred 0.77
- ClinVar: Likely pathogenic (Generalized epilepsy-paroxysmal dyskinesia syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available