V5L (p.Val5Leu) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
V5L (p.Val5Leu) 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 0.18 / 1. The record also includes population frequency data and structural context.
V5L (p.Val5Leu) variant details
- p.Val5Leu
- TOPMed rs1447527615
- gnomAD rs1447527615
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.31
- MetaLR 0.16
- MetaSVM -0.94
- CADD 9.06
- Population evidence available
- Structural context available