H88R (p.His88Arg) variant of PIEZO2 (Q9H5I5)
H88R (p.His88Arg) in PIEZO2 (Q9H5I5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
H88R (p.His88Arg) variant details
- p.His88Arg
- TOPMed rs2034586210
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.17
- MetaSVM -0.95
- CADD 21.20
- Most common in the Non-Finnish European population (allele frequency 3.7e-06)
- Structural context available