Q53P (p.Gln53Pro) variant of PIEZO2 (Q9H5I5)
Q53P (p.Gln53Pro) in PIEZO2 (Q9H5I5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
Q53P (p.Gln53Pro) variant details
- p.Gln53Pro
- TOPMed rs1316183316
- gnomAD rs1316183316
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.27
- ESM-1b 0.00
- AlphaMissense 0.24
- MetaLR 0.19
- MetaSVM -0.71
- CADD 21.90
- Most common in the East Asian population (allele frequency 0.00039)
- Structural context available