S54F (p.Ser54Phe) variant of KCNMA1 (Q12791)
S54F (p.Ser54Phe) 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.
S54F (p.Ser54Phe) variant details
- p.Ser54Phe
- rs765445169
- ClinGen CA5568794
- ClinVar RCV003857365
- ExAC rs765445169
- Uncertain significance
- Generalized epilepsy-paroxysmal dyskinesia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.07
- CADD 23.80
- PolyPhen-2 0.14
- SIFT 0.01
- ClinVar: Uncertain significance (Generalized epilepsy-paroxysmal dyskinesia syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)