W43R (p.Trp43Arg) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
W43R (p.Trp43Arg) 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 0.61 / 1. The record also includes population frequency data and structural context.
W43R (p.Trp43Arg) variant details
- p.Trp43Arg
- TOPMed rs1906265797
- Missense
- Variant Prioritization Score for Impact Estimate 0.608
- REVEL 0.61
- ESM-1b 1.00
- AlphaMissense 0.68
- MetaLR 0.39
- MetaSVM -0.25
- CADD 27.10
- Population evidence available
- Structural context available