T108K (p.Thr108Lys) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
T108K (p.Thr108Lys) in PIEZO1 (Piezo-type mechanosensitive ion channel component 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes structural context.
T108K (p.Thr108Lys) variant details
- p.Thr108Lys
- TOPMed rs1415633070
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- ESM-1b 0.00
- AlphaMissense 0.48
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available