D765H (p.Asp765His) variant of ATP7B (Copper-transporting ATPase 2)
D765H (p.Asp765His) 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 not provided; Wilson disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
D765H (p.Asp765His) variant details
- p.Asp765His
- rs28942075
- UniProt VAR 076811
- ExAC rs28942075
- gnomAD rs28942075
- Pathogenic/Likely pathogenic
- not provided; Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.915
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.95
- MetaSVM 1.10
- CADD 27.70
- ClinVar: Pathogenic/Likely pathogenic (not provided; Wilson disease)
- EBI: Pathogenic (in WD)
- UniProt: Pathogenic (in WD)
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available
- Cited in: Mutation analysis of the ATP7B gene in a new group of Wilson's disease patients: contribution to diagnosis. (PMID 22484412)
- Cited in: The His1069Gln mutation in the ATP7B gene in Russian patients with Wilson disease. (PMID 10051024)