G1341D (p.Gly1341Asp) variant of ATP7B (Copper-transporting ATPase 2)
G1341D (p.Gly1341Asp) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes population frequency data, published literature, and structural context.
G1341D (p.Gly1341Asp) variant details
- p.Gly1341Asp
- rs779494870
- ClinGen CA6988504
- ClinVar RCV000824312
- ClinVar RCV003480876
- Pathogenic/Likely pathogenic
- Wilson disease; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.942
- REVEL 0.98
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 1.04
- CADD 32.00
- ClinVar: Pathogenic/Likely pathogenic (Wilson disease; not provided)
- EBI: Pathogenic (in WD)
- UniProt: Pathogenic (in WD)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease. (PMID 15967699)
- Cited in: Spectrum of mutations in the Wilson disease gene (ATP7B) in the Bulgarian population. (PMID 16207219)