G13E (p.Gly13Glu) variant of PRRT2 (Q7Z6L0)
G13E (p.Gly13Glu) 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 0.33 / 1. The record also includes population frequency data and structural context.
G13E (p.Gly13Glu) variant details
- p.Gly13Glu
- rs2543330836
- ClinGen CA395477041
- ClinVar RCV003759542
- Uncertain significance
- Episodic kinesigenic dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.11
- CADD 5.83
- PolyPhen-2 0.00
- SIFT 0.10
- ClinVar: Uncertain significance (Episodic kinesigenic dyskinesia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available