W779G (p.Trp779Gly) variant of ATP7B (Copper-transporting ATPase 2)
W779G (p.Trp779Gly) 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 not provided; Wilson disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
W779G (p.Trp779Gly) variant details
- p.Trp779Gly
- rs751798708
- ClinGen CA6989057
- ClinVar RCV000673490
- ClinVar RCV001091640
- Pathogenic/Likely pathogenic
- not provided; Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.866
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 0.78
- MetaLR 0.91
- MetaSVM 1.04
- CADD 32.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Wilson disease)
- EBI: Pathogenic (in WD)
- UniProt: Pathogenic (in WD)
- Most common in the HGDP:SARDINIAN population (allele frequency 0.056)
- Structural context available
- Cited in: Identification of a novel Wilson disease gene mutation frequent in Upper Austria: a genetic and clinical study. (PMID 22763723)
- Cited in: A new ATP7B gene mutation with severe condition in two unrelated Iranian families with Wilson disease. (PMID 23159873)