E46K (p.Glu46Lys) variant of PRRT2 (Q7Z6L0)
E46K (p.Glu46Lys) 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 0.40 / 1. The record also includes population frequency data and structural context.
E46K (p.Glu46Lys) variant details
- p.Glu46Lys
- rs1456787900
- ClinGen CA395477422
- ClinVar RCV002615767
- gnomAD rs1456787900
- Uncertain significance
- Episodic kinesigenic dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.30
- CADD 24.60
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Episodic kinesigenic dyskinesia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available