M95V (p.Met95Val) variant of KCNMA1 (Q12791)
M95V (p.Met95Val) in KCNMA1 (Q12791) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Generalized epilepsy-paroxysmal dyskinesia syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1.
M95V (p.Met95Val) variant details
- p.Met95Val
- rs762347754
- ClinGen CA377412379
- ClinVar RCV001322342
- ClinVar RCV004584882
- Uncertain significance
- not provided; Generalized epilepsy-paroxysmal dyskinesia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- AlphaMissense 0.59
- MetaLR 0.06
- MetaSVM -1.10
- PolyPhen-2 0.00
- SIFT 0.46
- MutPred 0.32
- ClinVar: Uncertain significance (not provided; Generalized epilepsy-paroxysmal dyskinesia syndrom)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance