S45* (p.Ser45Ter) variant of PIEZO2 (Q9H5I5)
S45* (p.Ser45Ter) in PIEZO2 (Q9H5I5) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
S45* (p.Ser45Ter) variant details
- p.Ser45Ter
- gnomAD 18-10666726-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.157
- CADD 1.41
- Population evidence available
- Structural context available
- Literature evidence available