C23Y (p.Cys23Tyr) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
C23Y (p.Cys23Tyr) 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 0.41 / 1. The record also includes population frequency data and structural context.
C23Y (p.Cys23Tyr) variant details
- p.Cys23Tyr
- gnomAD rs1339064718
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.26
- ESM-1b 1.00
- AlphaMissense 0.79
- MetaLR 0.21
- MetaSVM -0.70
- CADD 22.60
- Population evidence available
- Structural context available