S67R (p.Ser67Arg) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
S67R (p.Ser67Arg) 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 0.99 / 1. The record also includes structural context.
S67R (p.Ser67Arg) variant details
- p.Ser67Arg
- TOPMed rs1905738845
- Missense
- Variant Prioritization Score for Impact Estimate 0.993
- ESM-1b 1.00
- AlphaMissense 0.99
- Structural context available