E15K (p.Glu15Lys) variant of PRRT2 (Q7Z6L0)
E15K (p.Glu15Lys) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
E15K (p.Glu15Lys) variant details
- p.Glu15Lys
- rs1900058315
- ClinGen CA395477050
- ClinVar RCV002667500
- ClinVar RCV004774712
- Uncertain significance
- Episodic kinesigenic dyskinesia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.136
- REVEL 0.07
- CADD 15.40
- PolyPhen-2 0.00
- SIFT 0.02
- ClinVar: Uncertain significance (Episodic kinesigenic dyskinesia; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available