A8G (p.Ala8Gly) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
A8G (p.Ala8Gly) 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 0.14 / 1. The record also includes structural context.
A8G (p.Ala8Gly) variant details
- p.Ala8Gly
- gnomAD rs1324467727
- Missense
- Variant Prioritization Score for Impact Estimate 0.137
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.10
- MetaSVM -0.96
- SIFT 0.85
- Structural context available