G106E (p.Gly106Glu) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
G106E (p.Gly106Glu) 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 0.75 / 1. The record also includes population frequency data and structural context.
G106E (p.Gly106Glu) variant details
- p.Gly106Glu
- gnomAD rs1457610667
- Missense
- Variant Prioritization Score for Impact Estimate 0.746
- REVEL 0.69
- ESM-1b 1.00
- AlphaMissense 0.90
- MetaLR 0.72
- MetaSVM 0.57
- CADD 23.40
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.6e-05)
- Structural context available