Y34C (p.Tyr34Cys) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
Y34C (p.Tyr34Cys) in PIEZO1 (Piezo-type mechanosensitive ion channel component 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
Y34C (p.Tyr34Cys) variant details
- p.Tyr34Cys
- TOPMed rs1002345695
- gnomAD rs1002345695
- Missense
- Variant Prioritization Score for Impact Estimate 0.742
- REVEL 0.78
- ESM-1b 1.00
- AlphaMissense 0.67
- MetaLR 0.76
- MetaSVM 0.63
- CADD 27.60
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available