M1V (p.Met1Val) variant of KCNMA1 (Q12791)
M1V (p.Met1Val) 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 0.36 / 1.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs1232656132
- ClinGen CA377412970
- ClinVar RCV003076624
- Uncertain significance
- Generalized epilepsy-paroxysmal dyskinesia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- MetaLR 0.31
- MetaSVM -0.80
- PolyPhen-2 0.00
- SIFT 0.00
- MutPred 0.83
- ClinVar: Uncertain significance (Generalized epilepsy-paroxysmal dyskinesia syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance