E2G (p.Glu2Gly) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
E2G (p.Glu2Gly) 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 0.29 / 1. The record also includes population frequency data and structural context.
E2G (p.Glu2Gly) variant details
- p.Glu2Gly
- Ensembl rs1908115352
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.25
- ESM-1b 0.00
- AlphaMissense 0.43
- MetaLR 0.36
- MetaSVM -0.51
- CADD 21.70
- Population evidence available
- Structural context available