R26C (p.Arg26Cys) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
R26C (p.Arg26Cys) 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 0.71 / 1. The record also includes population frequency data and structural context.
R26C (p.Arg26Cys) variant details
- p.Arg26Cys
- ExAC rs752527980
- TOPMed rs752527980
- gnomAD rs752527980
- Missense
- Variant Prioritization Score for Impact Estimate 0.706
- REVEL 0.64
- ESM-1b 1.00
- AlphaMissense 0.50
- MetaLR 0.70
- MetaSVM 0.51
- CADD 26.60
- Most common in the Ashkenazi Jewish population (allele frequency 0.0052)
- Structural context available