V117L (p.Val117Leu) variant of KCNMA1 (Q12791)
V117L (p.Val117Leu) 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 0.30 / 1.
V117L (p.Val117Leu) variant details
- p.Val117Leu
- rs1257184004
- ClinGen CA377412232
- ClinVar RCV002295099
- TOPMed rs1257184004
- Uncertain significance
- Generalized epilepsy-paroxysmal dyskinesia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- AlphaMissense 0.80
- MetaLR 0.11
- MetaSVM -0.98
- PolyPhen-2 0.00
- SIFT 0.05
- MutPred 0.38
- ClinVar: Uncertain significance (Generalized epilepsy-paroxysmal dyskinesia syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance