L64P (p.Leu64Pro) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
L64P (p.Leu64Pro) 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 0.60 / 1. The record also includes population frequency data and structural context.
L64P (p.Leu64Pro) variant details
- p.Leu64Pro
- TOPMed rs1394166772
- gnomAD rs1394166772
- Missense
- Variant Prioritization Score for Impact Estimate 0.598
- REVEL 0.59
- ESM-1b 1.00
- AlphaMissense 0.34
- MetaLR 0.39
- MetaSVM -0.21
- CADD 25.50
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available