T56I (p.Thr56Ile) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
T56I (p.Thr56Ile) 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 Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
T56I (p.Thr56Ile) variant details
- p.Thr56Ile
- rs1308833107
- ClinGen CA397125303
- ClinVar RCV003352186
- TOPMed rs1308833107
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- REVEL 0.37
- ESM-1b 0.00
- AlphaMissense 0.41
- MetaLR 0.43
- MetaSVM -0.17
- CADD 24.70
- ClinVar: Uncertain significance (Inborn genetic diseases)
- 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
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)