A604V (p.Ala604Val) variant of ATP7B (Copper-transporting ATPase 2)
A604V (p.Ala604Val) 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 0.82 / 1. The record also includes population frequency data and structural context.
A604V (p.Ala604Val) variant details
- p.Ala604Val
- TOPMed rs959916899
- Uncertain significance
- Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.823
- REVEL 0.79
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.88
- MetaSVM 0.96
- CADD 28.10
- ClinVar: Uncertain significance (Wilson disease)
- EBI: Likely pathogenic (in WD)
- UniProt: Likely pathogenic (in WD)
- Most common in the HGDP:PATHAN population (allele frequency 0.14)
- Structural context available