E4* (p.Glu4Ter) variant of PIEZO2 (Q9H5I5)
E4* (p.Glu4Ter) in PIEZO2 (Q9H5I5) 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 1 / 1. The record also includes structural context.
E4* (p.Glu4Ter) variant details
- p.Glu4Ter
- rs1276813954
- ClinGen CA402030482
- ClinVar RCV001824230
- TOPMed rs1276813954
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 1
- CADD 42.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available