K112E (p.Lys112Glu) variant of KCNMA1 (Q12791)
K112E (p.Lys112Glu) 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 0.42 / 1. The record also includes population frequency data.
K112E (p.Lys112Glu) variant details
- p.Lys112Glu
- rs769727956
- ClinGen CA5568767
- ClinVar RCV003621955
- ExAC rs769727956
- Uncertain significance
- Generalized epilepsy-paroxysmal dyskinesia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.30
- CADD 23.40
- PolyPhen-2 0.03
- SIFT 0.26
- 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 9e-07)