L73* (p.Leu73Ter) variant of PIEZO2 (Q9H5I5)
L73* (p.Leu73Ter) in PIEZO2 (Q9H5I5) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
L73* (p.Leu73Ter) variant details
- p.Leu73Ter
- rs547918847
- gnomAD 18-10666654-A-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.216
- CADD 1.68
- Most common in the 1KG:CHB population (allele frequency 0.0049)
- Structural context available
- Literature evidence available