E16Q (p.Glu16Gln) variant of PRRT2 (Q7Z6L0)
E16Q (p.Glu16Gln) 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 0.38 / 1. The record also includes structural context.
E16Q (p.Glu16Gln) variant details
- p.Glu16Gln
- rs777959783
- ClinGen CA395477058
- ClinVar RCV001890232
- ExAC rs777959783
- Uncertain significance
- Episodic kinesigenic dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- AlphaMissense 0.10
- MetaLR 0.19
- MetaSVM -0.89
- PolyPhen-2 0.19
- SIFT 0.28
- EVE 0.43
- ClinVar: Uncertain significance (Episodic kinesigenic dyskinesia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available