V100M (p.Val100Met) variant of ATP7B (Copper-transporting ATPase 2)
V100M (p.Val100Met) in ATP7B (Copper-transporting ATPase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
V100M (p.Val100Met) variant details
- p.Val100Met
- gnomAD rs1952031151
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- REVEL 0.57
- ESM-1b 1.00
- AlphaMissense 0.15
- CADD 22.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available