D765N (p.Asp765Asn) variant of ATP7B (Copper-transporting ATPase 2)
D765N (p.Asp765Asn) 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 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
D765N (p.Asp765Asn) variant details
- p.Asp765Asn
- rs28942075
- ClinGen CA252893
- cosmic curated COSV10454
- ClinVar RCV000004059
- Pathogenic/Likely pathogenic
- Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.863
- REVEL 0.85
- ESM-1b 1.00
- AlphaMissense 0.89
- MetaLR 0.95
- MetaSVM 1.10
- CADD 27.40
- ClinVar: Pathogenic/Likely pathogenic (Wilson disease)
- EBI: Pathogenic (in WD)
- UniProt: Pathogenic (in WD)
- Most common in the HGDP:YORUBA population (allele frequency 0.19)
- Structural context available
- Cited in: Copper-dependent trafficking of Wilson disease mutant ATP7B proteins. (PMID 10942420)
- Cited in: High prevalence of the H1069Q mutation in East German patients with Wilson disease: rapid detection of mutations by… (PMID 11690702)