F70L (p.Phe70Leu) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
F70L (p.Phe70Leu) 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 0.38 / 1. The record also includes population frequency data and structural context.
F70L (p.Phe70Leu) variant details
- p.Phe70Leu
- TOPMed rs1471089115
- gnomAD rs1471089115
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.36
- ESM-1b 0.00
- AlphaMissense 0.93
- MetaLR 0.23
- MetaSVM -0.77
- CADD 26.60
- Most common in the HGDP:BERGAMOITALIAN population (allele frequency 0.045)
- Structural context available