L19P (p.Leu19Pro) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
L19P (p.Leu19Pro) 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 0.64 / 1. The record also includes population frequency data and structural context.
L19P (p.Leu19Pro) variant details
- p.Leu19Pro
- gnomAD rs1194877337
- Missense
- Variant Prioritization Score for Impact Estimate 0.638
- REVEL 0.72
- ESM-1b 1.00
- AlphaMissense 0.84
- MetaLR 0.58
- MetaSVM 0.12
- CADD 23.50
- Population evidence available
- Structural context available