E16K (p.Glu16Lys) variant of PRRT2 (Q7Z6L0)
E16K (p.Glu16Lys) 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 0.21 / 1. The record also includes population frequency data and structural context.
E16K (p.Glu16Lys) variant details
- p.Glu16Lys
- rs777959783
- ClinGen CA7994467
- ClinVar RCV001069135
- ExAC rs777959783
- Uncertain significance
- Episodic kinesigenic dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.02
- AlphaMissense 0.10
- MetaLR 0.19
- MetaSVM -0.89
- CADD 11.90
- PolyPhen-2 0.19
- ClinVar: Uncertain significance (Episodic kinesigenic dyskinesia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available