G85V (p.Gly85Val) variant of ATP7B (Copper-transporting ATPase 2)
G85V (p.Gly85Val) 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.
G85V (p.Gly85Val) variant details
- p.Gly85Val
- rs786204643
- ClinGen CA274300
- ClinVar RCV000169428
- UniProt VAR 000703
- Pathogenic/Likely pathogenic
- Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.855
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 0.67
- CADD 23.50
- ClinVar: Pathogenic/Likely pathogenic (Wilson disease)
- EBI: Pathogenic (in WD)
- UniProt: Pathogenic (in WD)
- Most common in the HGDP:PATHAN population (allele frequency 0.14)
- Structural context available
- Cited in: Mutation spectrum and polymorphisms in ATP7B identified on direct sequencing of all exons in Chinese Han and Hui ethnic… (PMID 14986826)
- Cited in: Distinct Wilson's disease mutations in ATP7B are associated with enhanced binding to COMMD1 and reduced stability of… (PMID 17919502)