G54S (p.Gly54Ser) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
G54S (p.Gly54Ser) 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 0.52 / 1. The record also includes population frequency data and structural context.
G54S (p.Gly54Ser) variant details
- p.Gly54Ser
- TOPMed rs1906263049
- Missense
- Variant Prioritization Score for Impact Estimate 0.521
- REVEL 0.49
- ESM-1b 0.00
- AlphaMissense 0.21
- MetaLR 0.51
- MetaSVM -0.05
- CADD 33.00
- Most common in the HGDP:BIAKA population (allele frequency 0.023)
- Structural context available