S52F (p.Ser52Phe) variant of KCNMA1 (Q12791)
S52F (p.Ser52Phe) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data.
S52F (p.Ser52Phe) variant details
- p.Ser52Phe
- rs1483499989
- ClinGen CA377412658
- cosmic curated COSV10879
- ClinVar RCV001906031
- Uncertain significance
- Generalized epilepsy-paroxysmal dyskinesia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.08
- CADD 22.40
- PolyPhen-2 0.03
- SIFT 0.01
- ClinVar: Uncertain significance (Generalized epilepsy-paroxysmal dyskinesia syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)