I29M (p.Ile29Met) variant of KCNMA1 (Q12791)
I29M (p.Ile29Met) in KCNMA1 (Q12791) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Generalized epilepsy-paroxysmal dyskinesia syndrome.
I29M (p.Ile29Met) variant details
- p.Ile29Met
- rs1186030487
- ClinGen CA377412788
- ClinVar RCV003510375
- Uncertain significance
- Generalized epilepsy-paroxysmal dyskinesia syndrome
- Missense
- ClinVar: Uncertain significance (Generalized epilepsy-paroxysmal dyskinesia syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance