C118G (p.Cys118Gly) variant of KCNMA1 (Q12791)
C118G (p.Cys118Gly) 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 0.39 / 1.
C118G (p.Cys118Gly) variant details
- p.Cys118Gly
- rs2154572103
- ClinGen CA377412225
- ClinVar RCV002031894
- Ensembl rs2154572103
- Uncertain significance
- Generalized epilepsy-paroxysmal dyskinesia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- AlphaMissense 0.92
- MetaLR 0.25
- MetaSVM -0.68
- PolyPhen-2 0.00
- SIFT 0.00
- MutPred 0.74
- ClinVar: Uncertain significance (Generalized epilepsy-paroxysmal dyskinesia syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance