S67I (p.Ser67Ile) variant of PIEZO2 (Q9H5I5)
S67I (p.Ser67Ile) in PIEZO2 (Q9H5I5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes structural context.
S67I (p.Ser67Ile) variant details
- p.Ser67Ile
- TOPMed rs1014032818
- gnomAD rs1014032818
- Missense
- Variant Prioritization Score for Impact Estimate 0.694
- REVEL 0.70
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.61
- MetaSVM 0.21
- CADD 25.70
- Structural context available