E10V (p.Glu10Val) variant of PRRT2 (Q7Z6L0)
E10V (p.Glu10Val) in PRRT2 (Q7Z6L0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Episodic kinesigenic dyskinesia. The record also includes structural context.
E10V (p.Glu10Val) variant details
- p.Glu10Val
- rs2543330753
- ClinGen CA395477021
- ClinVar RCV003760093
- Uncertain significance
- Episodic kinesigenic dyskinesia
- Missense
- ClinVar: Uncertain significance (Episodic kinesigenic dyskinesia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available