V5M (p.Val5Met) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
V5M (p.Val5Met) 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.
V5M (p.Val5Met) variant details
- p.Val5Met
- TOPMed rs1447527615
- gnomAD rs1447527615
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.29
- ESM-1b 0.00
- AlphaMissense 0.67
- MetaLR 0.28
- MetaSVM -0.60
- CADD 15.40
- Most common in the HGDP:BIAKA population (allele frequency 0.023)
- Structural context available