Q87* (p.Gln87Ter) variant of PIEZO2 (Q9H5I5)
Q87* (p.Gln87Ter) in PIEZO2 (Q9H5I5) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
Q87* (p.Gln87Ter) variant details
- p.Gln87Ter
- TOPMed rs757533147
- gnomAD rs757533147
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.759
- CADD 38.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-05)
- Structural context available