G40E (p.Gly40Glu) variant of PRRT2 (Q7Z6L0)
G40E (p.Gly40Glu) in PRRT2 (Q7Z6L0) is a missense change. Clinical records from ClinVar 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 0.25 / 1. The record also includes population frequency data and structural context.
G40E (p.Gly40Glu) variant details
- p.Gly40Glu
- gnomAD rs1421985271
- Uncertain significance
- Episodic kinesigenic dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.04
- CADD 14.90
- PolyPhen-2 0.01
- SIFT 0.23
- ClinVar: Uncertain significance (Episodic kinesigenic dyskinesia)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available