A18T (p.Ala18Thr) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
A18T (p.Ala18Thr) in PIEZO1 (Piezo-type mechanosensitive ion channel component 1) is a missense change. Clinical records from ClinVar 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 0.18 / 1. The record also includes population frequency data and structural context.
A18T (p.Ala18Thr) variant details
- p.Ala18Thr
- 1000Genomes rs1908111197
- TOPMed rs1908111197
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- REVEL 0.07
- ESM-1b 0.66
- AlphaMissense 0.13
- MetaLR 0.08
- MetaSVM -0.95
- CADD 7.94
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available