L14M (p.Leu14Met) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
L14M (p.Leu14Met) 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 0.43 / 1. The record also includes population frequency data and structural context.
L14M (p.Leu14Met) variant details
- p.Leu14Met
- TOPMed rs1426601342
- gnomAD rs1426601342
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.41
- ESM-1b 1.00
- AlphaMissense 0.28
- MetaLR 0.43
- MetaSVM -0.32
- CADD 22.10
- Population evidence available
- Structural context available