E85* (p.Glu85Ter) variant of PIEZO2 (Q9H5I5)
E85* (p.Glu85Ter) in PIEZO2 (Q9H5I5) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
E85* (p.Glu85Ter) variant details
- p.Glu85Ter
- gnomAD 18-10666634-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.0851
- CADD 0.66
- Population evidence available
- Structural context available
- Literature evidence available