T56R (p.Thr56Arg) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
T56R (p.Thr56Arg) 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 0.52 / 1. The record also includes population frequency data and structural context.
T56R (p.Thr56Arg) variant details
- p.Thr56Arg
- TOPMed rs1308833107
- gnomAD rs1308833107
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- REVEL 0.50
- ESM-1b 0.00
- AlphaMissense 0.22
- MetaLR 0.42
- MetaSVM -0.06
- CADD 24.20
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.6e-05)
- Structural context available