E99Q (p.Glu99Gln) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
E99Q (p.Glu99Gln) 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 0.25 / 1. The record also includes population frequency data and structural context.
E99Q (p.Glu99Gln) variant details
- p.Glu99Gln
- TOPMed rs1015238919
- gnomAD rs1015238919
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.21
- MetaLR 0.12
- MetaSVM -1.04
- CADD 22.70
- Most common in the HGDP:PATHAN population (allele frequency 0.14)
- Structural context available