V117M (p.Val117Met) variant of KCNMA1 (Q12791)
V117M (p.Val117Met) 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 0.38 / 1. The record also includes population frequency data.
V117M (p.Val117Met) variant details
- p.Val117Met
- rs1257184004
- ClinGen CA377412233
- ClinVar RCV001360178
- TOPMed rs1257184004
- Uncertain significance
- Generalized epilepsy-paroxysmal dyskinesia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.24
- AlphaMissense 0.80
- MetaLR 0.11
- MetaSVM -0.98
- CADD 23.80
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (Generalized epilepsy-paroxysmal dyskinesia syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available