L60M (p.Leu60Met) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
L60M (p.Leu60Met) 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 0.40 / 1. The record also includes population frequency data and structural context.
L60M (p.Leu60Met) variant details
- p.Leu60Met
- TOPMed rs1822542715
- gnomAD rs1822542715
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.24
- ESM-1b 1.00
- AlphaMissense 0.28
- MetaLR 0.17
- MetaSVM -0.94
- CADD 22.30
- Most common in the Ashkenazi Jewish population (allele frequency 0.0052)
- Structural context available