V73A (p.Val73Ala) variant of ATP7B (Copper-transporting ATPase 2)
V73A (p.Val73Ala) in ATP7B (Copper-transporting ATPase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
V73A (p.Val73Ala) variant details
- p.Val73Ala
- gnomAD rs1411080052
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- REVEL 0.64
- ESM-1b 0.00
- AlphaMissense 0.16
- CADD 23.40
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available