Q53* (p.Gln53Ter) variant of PIEZO2 (Q9H5I5)
Q53* (p.Gln53Ter) in PIEZO2 (Q9H5I5) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
Q53* (p.Gln53Ter) variant details
- p.Gln53Ter
- gnomAD 18-10666766-G-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.0813
- CADD 0.27
- Population evidence available
- Structural context available
- Literature evidence available