G324R (p.Gly324Arg) variant of PRRT2 (Q7Z6L0)
G324R (p.Gly324Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes structural context.
G324R (p.Gly324Arg) variant details
- p.Gly324Arg
- rs906768870
- ClinGen CA280411004
- ClinVar RCV001171909
- Ensembl rs906768870
- Pathogenic
- Episodic kinesigenic dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.146
- AlphaMissense 0.15
- ClinVar: Pathogenic (Episodic kinesigenic dyskinesia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available