E29* (p.Glu29Ter) variant of PRRT2 (Q7Z6L0)
E29* (p.Glu29Ter) in PRRT2 (Q7Z6L0) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes structural context.
E29* (p.Glu29Ter) variant details
- p.Glu29Ter
- rs1555502574
- ClinGen CA395477213
- ClinVar RCV000520994
- TOPMed rs1555502574
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.375
- AlphaMissense 0.08
- MetaLR 0.22
- MetaSVM -0.76
- PolyPhen-2 0.89
- SIFT 0.00
- EVE 0.30
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available