S93F (p.Ser93Phe) variant of KCNMA1 (Q12791)
S93F (p.Ser93Phe) in KCNMA1 (Q12791) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Generalized epilepsy-paroxysmal dyskinesia syndrome.
S93F (p.Ser93Phe) variant details
- p.Ser93Phe
- rs2552275315
- ClinGen CA377412386
- ClinVar RCV003510364
- ClinVar RCV005241540
- Uncertain significance
- not provided; Generalized epilepsy-paroxysmal dyskinesia syndrome
- Missense
- ClinVar: Uncertain significance (not provided; Generalized epilepsy-paroxysmal dyskinesia syndrom)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance