H55Q (p.His55Gln) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
H55Q (p.His55Gln) 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 0.35 / 1. The record also includes population frequency data and structural context.
H55Q (p.His55Gln) variant details
- p.His55Gln
- TOPMed rs1905742526
- gnomAD rs1905742526
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.31
- MetaLR 0.31
- MetaSVM -0.50
- CADD 23.50
- Population evidence available
- Structural context available