V59E (p.Val59Glu) variant of PRRT2 (Q7Z6L0)
V59E (p.Val59Glu) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes structural context.
V59E (p.Val59Glu) variant details
- p.Val59Glu
- rs1900066714
- ClinGen CA395477556
- ClinVar RCV001247164
- Ensembl rs1900066714
- Uncertain significance
- Episodic kinesigenic dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- AlphaMissense 0.13
- MetaLR 0.19
- MetaSVM -0.84
- PolyPhen-2 0.00
- SIFT 0.00
- EVE 0.24
- ClinVar: Uncertain significance (Episodic kinesigenic dyskinesia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available