G57D (p.Gly57Asp) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
G57D (p.Gly57Asp) 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.
G57D (p.Gly57Asp) variant details
- p.Gly57Asp
- gnomAD rs1444955142
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.36
- ESM-1b 0.00
- AlphaMissense 0.34
- MetaLR 0.37
- MetaSVM -0.41
- CADD 21.40
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available