E942K (p.Glu942Lys) variant of KCNMA1 (Q12791)
E942K (p.Glu942Lys) in KCNMA1 (Q12791) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Generalized epilepsy-paroxysmal dyskinesia syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and published literature.
E942K (p.Glu942Lys) variant details
- p.Glu942Lys
- rs1554966197
- ClinGen CA377405404
- ClinVar RCV000504574
- Ensembl rs1554966197
- Pathogenic
- Generalized epilepsy-paroxysmal dyskinesia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.66
- REVEL 0.56
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Generalized epilepsy-paroxysmal dyskinesia syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Cited in: De novo KCNMA1 mutations in children with early-onset paroxysmal dyskinesia and developmental delay. (PMID 26195193)