T766M (p.Thr766Met) variant of ATP7B (Copper-transporting ATPase 2)
T766M (p.Thr766Met) 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 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
T766M (p.Thr766Met) variant details
- p.Thr766Met
- rs121907997
- ClinGen CA6989069
- ClinVar RCV000780926
- ClinVar RCV002223938
- Pathogenic/Likely pathogenic
- not provided; Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.889
- REVEL 0.94
- ESM-1b 1.00
- AlphaMissense 0.58
- MetaLR 0.96
- MetaSVM 1.10
- CADD 28.20
- ClinVar: Pathogenic/Likely pathogenic (not provided; Wilson disease)
- EBI: Pathogenic (in WD)
- UniProt: Pathogenic (in WD)
- Most common in the HGDP:TUSCAN population (allele frequency 1)
- Structural context available
- Cited in: Twenty-four novel mutations in Wilson disease patients of predominantly European ancestry. (PMID 16088907)
- Cited in: The His1069Gln mutation in the ATP7B gene in Russian patients with Wilson disease. (PMID 10051024)