T108R (p.Thr108Arg) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
T108R (p.Thr108Arg) 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 0.38 / 1. The record also includes structural context.
T108R (p.Thr108Arg) variant details
- p.Thr108Arg
- TOPMed rs1415633070
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.45
- ESM-1b 0.00
- AlphaMissense 0.34
- MetaLR 0.18
- MetaSVM -0.79
- SIFT 0.51
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available