D829G (p.Asp829Gly) variant of ATP7B (Copper-transporting ATPase 2)
D829G (p.Asp829Gly) in ATP7B (Copper-transporting ATPase 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided; Wilson disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
D829G (p.Asp829Gly) variant details
- p.Asp829Gly
- rs1566503575
- ClinGen CA388016681
- ClinVar RCV000707143
- ClinVar RCV004702364
- Conflicting interpretations
- not specified; not provided; Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.844
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 0.98
- CADD 26.50
- PolyPhen-2 0.60
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; Wilson disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.25)
- Structural context available
- Cited in: Diagnosis and treatment of Wilson disease: an update. (PMID 18506894)
- Cited in: Wilson Disease. (PMID 20301685)