T100N (p.Thr100Asn) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
T100N (p.Thr100Asn) 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 0.12 / 1. The record also includes population frequency data and structural context.
T100N (p.Thr100Asn) variant details
- p.Thr100Asn
- ExAC rs757724495
- TOPMed rs757724495
- gnomAD rs757724495
- Missense
- Variant Prioritization Score for Impact Estimate 0.117
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.12
- MetaSVM -1.02
- CADD 0.17
- Most common in the HGDP:TUSCAN population (allele frequency 1)
- Structural context available