C108R (p.Cys108Arg) variant of ATP7B (Copper-transporting ATPase 2)
C108R (p.Cys108Arg) in ATP7B (Copper-transporting ATPase 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Wilson disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes published literature and structural context.
C108R (p.Cys108Arg) variant details
- p.Cys108Arg
- rs1566603189
- ClinGen CA388044443
- ClinVar RCV000755715
- UniProt VAR 076730
- Uncertain significance
- Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- ESM-1b 0.00
- AlphaMissense 0.13
- MetaLR 0.34
- MetaSVM -0.21
- PolyPhen-2 0.00
- SIFT 0.02
- ClinVar: Uncertain significance (Wilson disease)
- EBI: Variant of uncertain significance (in WD)
- UniProt: Uncertain significance (in WD)
- Structural context available
- Cited in: Distinct clinical courses according to presenting phenotypes and their correlations to ATP7B mutations in a large… (PMID 21645214)
- Cited in: The His1069Gln mutation in the ATP7B gene in Russian patients with Wilson disease. (PMID 10051024)