S47F (p.Ser47Phe) variant of KCNMA1 (Q12791)
S47F (p.Ser47Phe) 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 0.14 / 1. The record also includes population frequency data.
S47F (p.Ser47Phe) variant details
- p.Ser47Phe
- rs907549386
- ClinGen CA210159548
- ClinVar RCV001912818
- TOPMed rs907549386
- Uncertain significance
- Generalized epilepsy-paroxysmal dyskinesia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.143
- REVEL 0.04
- CADD 21.70
- PolyPhen-2 0.03
- SIFT 0.06
- 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 2.9e-05)