L192I (p.Leu192Ile) variant of KCNMA1 (Q12791)
L192I (p.Leu192Ile) in KCNMA1 (Q12791) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Generalized epilepsy-paroxysmal dyskinesia syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1.
L192I (p.Leu192Ile) variant details
- p.Leu192Ile
- rs2154251764
- ClinGen CA377410831
- ClinVar RCV001976650
- Ensembl rs2154251764
- Likely pathogenic
- Generalized epilepsy-paroxysmal dyskinesia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- AlphaMissense 0.79
- MetaLR 0.36
- MetaSVM -0.48
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.42
- ClinVar: Likely pathogenic (Generalized epilepsy-paroxysmal dyskinesia syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic