P93S (p.Pro93Ser) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
P93S (p.Pro93Ser) 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 0.14 / 1. The record also includes population frequency data and structural context.
P93S (p.Pro93Ser) variant details
- p.Pro93Ser
- ExAC rs770619345
- gnomAD rs770619345
- Missense
- Variant Prioritization Score for Impact Estimate 0.14
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.04
- MetaSVM -1.02
- CADD 10.90
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available