Q53R (p.Gln53Arg) variant of PIEZO2 (Q9H5I5)
Q53R (p.Gln53Arg) in PIEZO2 (Q9H5I5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
Q53R (p.Gln53Arg) variant details
- p.Gln53Arg
- TOPMed rs1316183316
- gnomAD rs1316183316
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.13
- MetaSVM -0.86
- CADD 21.80
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available