I79V (p.Ile79Val) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
I79V (p.Ile79Val) 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 0.27 / 1. The record also includes structural context.
I79V (p.Ile79Val) variant details
- p.Ile79Val
- TOPMed rs1905736296
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- ESM-1b 0.00
- AlphaMissense 0.16
- MetaLR 0.24
- MetaSVM -0.74
- SIFT 0.00
- Structural context available