S59P (p.Ser59Pro) variant of KCNMA1 (Q12791)
S59P (p.Ser59Pro) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data.
S59P (p.Ser59Pro) variant details
- p.Ser59Pro
- rs2093880726
- ClinGen CA377412620
- ClinVar RCV001757836
- ClinVar RCV001882825
- Uncertain significance
- not provided; Generalized epilepsy-paroxysmal dyskinesia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- CADD 14.80
- ClinVar: Uncertain significance (not provided; Generalized epilepsy-paroxysmal dyskinesia syndrom)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available