H1069Q (p.His1069Gln) variant of ATP7B (Copper-transporting ATPase 2)
H1069Q (p.His1069Gln) in ATP7B (Copper-transporting ATPase 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Inborn genetic diseases; not provided; Wilson disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
H1069Q (p.His1069Gln) variant details
- p.His1069Gln
- rs76151636
- ClinGen CA220309
- ClinVar RCV000004052
- ClinVar RCV000078049
- Pathogenic
- Inborn genetic diseases; not provided; Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.753
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 24.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Inborn genetic diseases; not provided; Wilson disease)
- EBI: Pathogenic (in WD)
- UniProt: Pathogenic (in WD)
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available
- Cited in: The His1069Gln mutation in the ATP7B gene in Russian patients with Wilson disease. (PMID 10051024)
- Cited in: Molecular characterization of wilson disease in the Sardinian population--evidence of a founder effect. (PMID 10502776)