R1041W (p.Arg1041Trp) variant of ATP7B (Copper-transporting ATPase 2)
R1041W (p.Arg1041Trp) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
R1041W (p.Arg1041Trp) variant details
- p.Arg1041Trp
- rs746485916
- ClinGen CA6988802
- ClinVar RCV000308454
- ClinVar RCV003223635
- Pathogenic/Likely pathogenic
- Wilson disease; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.691
- REVEL 0.83
- ESM-1b 1.00
- AlphaMissense 0.32
- CADD 23.80
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Wilson disease; not provided)
- EBI: Pathogenic (in WD)
- UniProt: Pathogenic (in WD)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations. (PMID 10544227)
- Cited in: Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease. (PMID 15967699)