Q49E (p.Gln49Glu) variant of PRRT2 (Q7Z6L0)
Q49E (p.Gln49Glu) in PRRT2 (Q7Z6L0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Episodic kinesigenic dyskinesia. The record also includes structural context.
Q49E (p.Gln49Glu) variant details
- p.Gln49Glu
- rs2543331489
- ClinGen CA395477460
- ClinVar RCV003059492
- ClinVar RCV004763516
- Uncertain significance
- not provided; Episodic kinesigenic dyskinesia
- Missense
- ClinVar: Uncertain significance (not provided; Episodic kinesigenic dyskinesia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available