A2E (p.Ala2Glu) variant of PRRT2 (Q7Z6L0)
A2E (p.Ala2Glu) 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 0.50 / 1. The record also includes population frequency data and structural context.
A2E (p.Ala2Glu) variant details
- p.Ala2Glu
- rs776704621
- ClinGen CA7994459
- ClinVar RCV003758285
- ExAC rs776704621
- Uncertain significance
- Episodic kinesigenic dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- REVEL 0.30
- CADD 24.80
- 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 REMAINING population (allele frequency 1.7e-05)
- Structural context available