Y11* (p.Tyr11Ter) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
Y11* (p.Tyr11Ter) in PIEZO1 (Piezo-type mechanosensitive ion channel component 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
Y11* (p.Tyr11Ter) variant details
- p.Tyr11Ter
- Ensembl rs2142919711
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.556
- CADD 37.00
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available