C121R (p.Cys121Arg) variant of KCNMA1 (Q12791)
C121R (p.Cys121Arg) 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 0.32 / 1.
C121R (p.Cys121Arg) variant details
- p.Cys121Arg
- rs1390486916
- ClinGen CA377412204
- ClinVar RCV001341922
- TOPMed rs1390486916
- Uncertain significance
- Generalized epilepsy-paroxysmal dyskinesia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- AlphaMissense 0.91
- MetaLR 0.12
- MetaSVM -1.02
- PolyPhen-2 0.07
- SIFT 0.03
- MutPred 0.61
- ClinVar: Uncertain significance (Generalized epilepsy-paroxysmal dyskinesia syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance