G324V (p.Gly324Val) variant of PRRT2 (Q7Z6L0)
G324V (p.Gly324Val) in PRRT2 (Q7Z6L0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Episodic kinesigenic dyskinesia and familial infantile convulsions with paroxysm. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
G324V (p.Gly324Val) variant details
- p.Gly324Val
- rs796052938
- ClinGen CA395480743
- ClinVar RCV001959350
- ClinVar RCV004671574
- Likely pathogenic
- Episodic kinesigenic dyskinesia and familial infantile convulsions with paroxysm
- Missense
- Variant Prioritization Score for Impact Estimate 0.858
- REVEL 0.94
- AlphaMissense 0.76
- MetaLR 0.85
- MetaSVM 0.93
- CADD 27.00
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (Episodic kinesigenic dyskinesia and familial infantile convulsio)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available