C80Y (p.Cys80Tyr) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
C80Y (p.Cys80Tyr) 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 0.32 / 1. The record also includes population frequency data and structural context.
C80Y (p.Cys80Tyr) variant details
- p.Cys80Tyr
- gnomAD rs1375965350
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.44
- MetaLR 0.23
- MetaSVM -0.64
- CADD 22.00
- Most common in the 1KG:ACB population (allele frequency 0.038)
- Structural context available