T766R (p.Thr766Arg) variant of ATP7B (Copper-transporting ATPase 2)
T766R (p.Thr766Arg) 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 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
T766R (p.Thr766Arg) variant details
- p.Thr766Arg
- rs121907997
- ClinGen CA252898
- ClinVar RCV000004065
- UniProt VAR 044464
- Pathogenic/Likely pathogenic
- Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.901
- REVEL 0.93
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.95
- MetaSVM 1.10
- CADD 27.10
- ClinVar: Pathogenic/Likely pathogenic (Wilson disease)
- EBI: Pathogenic (in WD)
- UniProt: Pathogenic (in WD)
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.6e-05)
- Structural context available
- Cited in: Strokelike presentation of Wilson disease with homozygosity for a novel T766R mutation. (PMID 15557537)
- Cited in: The His1069Gln mutation in the ATP7B gene in Russian patients with Wilson disease. (PMID 10051024)