T48I (p.Thr48Ile) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
T48I (p.Thr48Ile) 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 0.20 / 1. The record also includes population frequency data and structural context.
T48I (p.Thr48Ile) variant details
- p.Thr48Ile
- TOPMed rs1906264366
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.25
- MetaLR 0.22
- MetaSVM -0.88
- CADD 15.40
- Population evidence available
- Structural context available