R85S (p.Arg85Ser) variant of KCNMA1 (Q12791)
R85S (p.Arg85Ser) 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 0.43 / 1.
R85S (p.Arg85Ser) variant details
- p.Arg85Ser
- rs2154572127
- ClinGen CA377412444
- ClinVar RCV001910312
- Ensembl rs2154572127
- Uncertain significance
- Generalized epilepsy-paroxysmal dyskinesia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- AlphaMissense 1.00
- MetaLR 0.25
- MetaSVM -0.70
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.74
- ClinVar: Uncertain significance (Generalized epilepsy-paroxysmal dyskinesia syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance