V73M (p.Val73Met) variant of ATP7B (Copper-transporting ATPase 2)
V73M (p.Val73Met) in ATP7B (Copper-transporting ATPase 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Wilson disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
V73M (p.Val73Met) variant details
- p.Val73Met
- Ensembl rs1952035621
- Uncertain significance
- Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.634
- REVEL 0.66
- ESM-1b 1.00
- AlphaMissense 0.19
- CADD 24.50
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (Wilson disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available