T100I (p.Thr100Ile) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
T100I (p.Thr100Ile) 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 0.13 / 1. The record also includes population frequency data and structural context.
T100I (p.Thr100Ile) variant details
- p.Thr100Ile
- ExAC rs757724495
- TOPMed rs757724495
- gnomAD rs757724495
- Missense
- Variant Prioritization Score for Impact Estimate 0.127
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.13
- MetaSVM -1.02
- CADD 0.36
- Most common in the 1KG:CHB population (allele frequency 0.015)
- Structural context available