A22T (p.Ala22Thr) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
A22T (p.Ala22Thr) 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 0.60 / 1. The record also includes population frequency data and structural context.
A22T (p.Ala22Thr) variant details
- p.Ala22Thr
- ExAC rs769822489
- TOPMed rs769822489
- gnomAD rs769822489
- Missense
- Variant Prioritization Score for Impact Estimate 0.603
- REVEL 0.58
- ESM-1b 1.00
- AlphaMissense 0.59
- MetaLR 0.50
- MetaSVM -0.14
- CADD 26.80
- Population evidence available
- Structural context available