G57C (p.Gly57Cys) variant of PIEZO2 (Q9H5I5)
G57C (p.Gly57Cys) in PIEZO2 (Q9H5I5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
G57C (p.Gly57Cys) variant details
- p.Gly57Cys
- gnomAD 18-10666685-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- ESM-1b 0.00
- AlphaMissense 0.88
- CADD 0.37
- Population evidence available
- Structural context available
- Literature evidence available