G57S (p.Gly57Ser) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
G57S (p.Gly57Ser) 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 0.36 / 1. The record also includes population frequency data and structural context.
G57S (p.Gly57Ser) variant details
- p.Gly57Ser
- TOPMed rs939521859
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.13
- MetaLR 0.20
- MetaSVM -0.89
- CADD 16.70
- Most common in the HGDP:BRAHUI population (allele frequency 0.065)
- Structural context available