D1279G (p.Asp1279Gly) variant of ATP7B (Copper-transporting ATPase 2)
D1279G (p.Asp1279Gly) 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.
D1279G (p.Asp1279Gly) variant details
- p.Asp1279Gly
- rs778914828
- ClinGen CA6988563
- ClinVar RCV000668962
- UniProt VAR 023040
- Pathogenic/Likely pathogenic
- Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.855
- REVEL 0.94
- ESM-1b 1.00
- AlphaMissense 0.65
- MetaLR 0.92
- MetaSVM 1.05
- CADD 31.00
- ClinVar: Pathogenic/Likely pathogenic (Wilson disease)
- EBI: Pathogenic (in WD)
- UniProt: Pathogenic (in WD)
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available
- Cited in: Molecular analysis of Wilson disease in Taiwan: identification of one novel mutation and evidence of haplotype-mutation… (PMID 11043508)
- Cited in: The His1069Gln mutation in the ATP7B gene in Russian patients with Wilson disease. (PMID 10051024)