T56A (p.Thr56Ala) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
T56A (p.Thr56Ala) in PIEZO1 (Piezo-type mechanosensitive ion channel component 1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
T56A (p.Thr56Ala) variant details
- p.Thr56Ala
- ExAC rs758308856
- TOPMed rs758308856
- gnomAD rs758308856
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.27
- MetaSVM -0.68
- CADD 17.70
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available