A874P (p.Ala874Pro) variant of ATP7B (Copper-transporting ATPase 2)
A874P (p.Ala874Pro) in ATP7B (Copper-transporting ATPase 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Wilson disease; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
A874P (p.Ala874Pro) variant details
- p.Ala874Pro
- rs376355660
- ClinGen CA250085276
- ClinVar RCV000674734
- ClinVar RCV004792368
- Likely pathogenic
- Wilson disease; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- REVEL 0.84
- ESM-1b 1.00
- AlphaMissense 0.98
- CADD 24.40
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Wilson disease)
- EBI: Pathogenic (in WD)
- UniProt: Pathogenic (in WD)
- Most common in the 1KG:CHB population (allele frequency 0.015)
- Structural context available
- Cited in: Mutational analysis of ATP7B in north Chinese patients with Wilson disease. (PMID 23235335)
- Cited in: The His1069Gln mutation in the ATP7B gene in Russian patients with Wilson disease. (PMID 10051024)