W43C (p.Trp43Cys) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
W43C (p.Trp43Cys) 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 not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
W43C (p.Trp43Cys) variant details
- p.Trp43Cys
- gnomAD rs1361614570
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.566
- REVEL 0.51
- ESM-1b 1.00
- AlphaMissense 0.39
- MetaLR 0.40
- MetaSVM -0.20
- CADD 24.10
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available