C17S (p.Cys17Ser) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
C17S (p.Cys17Ser) 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 0.19 / 1. The record also includes population frequency data and structural context.
C17S (p.Cys17Ser) variant details
- p.Cys17Ser
- TOPMed rs1908111318
- gnomAD rs1908111318
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- REVEL 0.02
- ESM-1b 0.00
- AlphaMissense 0.15
- MetaLR 0.16
- MetaSVM -1.01
- CADD 9.93
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available