V5A (p.Val5Ala) variant of PIEZO2 (Q9H5I5)
V5A (p.Val5Ala) in PIEZO2 (Q9H5I5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes structural context.
V5A (p.Val5Ala) variant details
- p.Val5Ala
- TOPMed rs2040869151
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.43
- MetaLR 0.30
- MetaSVM -0.54
- CADD 23.70
- Structural context available