E16G (p.Glu16Gly) variant of PRRT2 (Q7Z6L0)
E16G (p.Glu16Gly) 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 0.17 / 1. The record also includes population frequency data and structural context.
E16G (p.Glu16Gly) variant details
- p.Glu16Gly
- rs1900058666
- ClinGen CA395477061
- ClinVar RCV001566617
- ClinVar RCV006467697
- Uncertain significance
- Episodic kinesigenic dyskinesia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.171
- REVEL 0.07
- CADD 23.00
- PolyPhen-2 0.09
- SIFT 0.00
- ClinVar: Uncertain significance (Episodic kinesigenic dyskinesia; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available