D829H (p.Asp829His) variant of ATP7B (Copper-transporting ATPase 2)
D829H (p.Asp829His) 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 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
D829H (p.Asp829His) variant details
- p.Asp829His
- rs181388674
- ClinGen CA250058572
- ClinVar RCV003061598
- 1000Genomes rs181388674
- Pathogenic/Likely pathogenic
- Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.902
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Wilson disease)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available
- Cited in: Diagnosis and treatment of Wilson disease: an update. (PMID 18506894)
- Cited in: Wilson Disease. (PMID 20301685)