G93* (p.Gly93Ter) variant of PIEZO2 (Q9H5I5)
G93* (p.Gly93Ter) 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.
G93* (p.Gly93Ter) variant details
- p.Gly93Ter
- rs1259482996
- gnomAD 18-10666640-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.0805
- CADD 0.12
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Literature evidence available