L23H (p.Leu23His) variant of KCNMA1 (Q12791)
L23H (p.Leu23His) 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 0.64 / 1. The record also includes population frequency data.
L23H (p.Leu23His) variant details
- p.Leu23His
- rs1411383112
- ClinGen CA377412835
- ClinVar RCV003860569
- TOPMed rs1411383112
- Uncertain significance
- Generalized epilepsy-paroxysmal dyskinesia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.638
- CADD 27.70
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (Generalized epilepsy-paroxysmal dyskinesia syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available