L107H (p.Leu107His) variant of KCNMA1 (Q12791)
L107H (p.Leu107His) 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.
L107H (p.Leu107His) variant details
- p.Leu107His
- rs2552275298
- ClinGen CA377412295
- ClinVar RCV003622599
- Uncertain significance
- Generalized epilepsy-paroxysmal dyskinesia syndrome
- Missense
- ClinVar: Uncertain significance (Generalized epilepsy-paroxysmal dyskinesia syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance