E16* (p.Glu16Ter) variant of PRRT2 (Q7Z6L0)
E16* (p.Glu16Ter) in PRRT2 (Q7Z6L0) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes published literature and structural context.
E16* (p.Glu16Ter) variant details
- p.Glu16Ter
- rs777959783
- ClinGen CA395477059
- ClinVar RCV003232633
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.378
- AlphaMissense 0.10
- MetaLR 0.19
- MetaSVM -0.89
- PolyPhen-2 0.19
- SIFT 0.28
- EVE 0.43
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: PRRT2-Related Disorder. (PMID 29334453)