D765G (p.Asp765Gly) variant of ATP7B (Copper-transporting ATPase 2)
D765G (p.Asp765Gly) in ATP7B (Copper-transporting ATPase 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Wilson disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
D765G (p.Asp765Gly) variant details
- p.Asp765Gly
- rs1555291147
- ClinGen CA388021872
- ClinVar RCV000589178
- UniProt VAR 023019
- Pathogenic/Likely pathogenic
- Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.866
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.94
- MetaSVM 1.09
- CADD 28.90
- ClinVar: Pathogenic/Likely pathogenic (Wilson disease)
- EBI: Pathogenic (in WD)
- UniProt: Pathogenic (in WD)
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.6e-05)
- Structural context available
- Cited in: Mutation spectrum and polymorphisms in ATP7B identified on direct sequencing of all exons in Chinese Han and Hui ethnic… (PMID 14986826)
- Cited in: The His1069Gln mutation in the ATP7B gene in Russian patients with Wilson disease. (PMID 10051024)