I71V (p.Ile71Val) variant of KCNMA1 (Q12791)
I71V (p.Ile71Val) 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.
I71V (p.Ile71Val) variant details
- p.Ile71Val
- rs2552275339
- ClinGen CA377412541
- ClinVar RCV003881185
- Uncertain significance
- Generalized epilepsy-paroxysmal dyskinesia syndrome
- Missense
- ClinVar: Uncertain significance (Generalized epilepsy-paroxysmal dyskinesia syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance