G324E (p.Gly324Glu) variant of PRRT2 (Q7Z6L0)
G324E (p.Gly324Glu) in PRRT2 (Q7Z6L0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Episodic kinesigenic dyskinesia; not provided; Seizure. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes structural context.
G324E (p.Gly324Glu) variant details
- p.Gly324Glu
- rs796052938
- ClinGen CA395480741
- ClinVar RCV001215553
- ClinVar RCV002511057
- Pathogenic
- Episodic kinesigenic dyskinesia; not provided; Seizure
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- AlphaMissense 0.76
- MetaLR 0.85
- MetaSVM 0.93
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.43
- ClinVar: Pathogenic (Episodic kinesigenic dyskinesia; not provided; Seizure)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available