S921R (p.Ser921Arg) variant of ATP7B (Copper-transporting ATPase 2)
S921R (p.Ser921Arg) 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 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
S921R (p.Ser921Arg) variant details
- p.Ser921Arg
- rs1052485948
- ClinGen CA388033818
- ClinVar RCV003610662
- TOPMed rs1052485948
- Pathogenic/Likely pathogenic
- Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- REVEL 0.86
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Wilson disease)
- EBI: Pathogenic (in WD)
- UniProt: Pathogenic (in WD)
- Most common in the Middle Eastern population (allele frequency 0.00017)
- 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)