S59F (p.Ser59Phe) variant of KCNMA1 (Q12791)
S59F (p.Ser59Phe) 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; Liang-Wang syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data.
S59F (p.Ser59Phe) variant details
- p.Ser59Phe
- rs2552275366
- ClinGen CA377412616
- ClinVar RCV003623854
- ClinVar RCV005860386
- Uncertain significance
- Generalized epilepsy-paroxysmal dyskinesia syndrome; Liang-Wang syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.12
- CADD 25.70
- PolyPhen-2 0.88
- SIFT 0.10
- ClinVar: Uncertain significance (Generalized epilepsy-paroxysmal dyskinesia syndrome; Liang-Wang)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00069)