E29K (p.Glu29Lys) variant of PRRT2 (Q7Z6L0)
E29K (p.Glu29Lys) 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 0.29 / 1. The record also includes population frequency data and structural context.
E29K (p.Glu29Lys) variant details
- p.Glu29Lys
- rs1555502574
- ClinGen CA395477211
- ClinVar RCV000521537
- ClinVar RCV000809721
- Uncertain significance
- Episodic kinesigenic dyskinesia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.10
- AlphaMissense 0.08
- MetaLR 0.22
- MetaSVM -0.76
- CADD 23.60
- PolyPhen-2 0.89
- ClinVar: Uncertain significance (Episodic kinesigenic dyskinesia; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available