L114M (p.Leu114Met) variant of KCNMA1 (Q12791)
L114M (p.Leu114Met) 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 0.35 / 1. The record also includes population frequency data.
L114M (p.Leu114Met) variant details
- p.Leu114Met
- rs780623276
- ClinGen CA5568765
- cosmic curated COSV54224
- ClinVar RCV000813847
- Uncertain significance
- Generalized epilepsy-paroxysmal dyskinesia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.14
- CADD 23.40
- PolyPhen-2 0.14
- SIFT 0.10
- ClinVar: Uncertain significance (Generalized epilepsy-paroxysmal dyskinesia syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)