S1363C (p.Ser1363Cys) variant of ATP7B (Copper-transporting ATPase 2)
S1363C (p.Ser1363Cys) in ATP7B (Copper-transporting ATPase 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Wilson disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
S1363C (p.Ser1363Cys) variant details
- p.Ser1363Cys
- rs776848753
- ClinGen CA6988495
- ClinVar RCV001580636
- ExAC rs776848753
- Conflicting interpretations
- Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.9
- REVEL 0.93
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.96
- CADD 29.00
- ClinVar: Conflicting classifications of pathogenicity (Wilson disease)
- EBI: Pathogenic (in WD)
- UniProt: Pathogenic (in WD)
- Most common in the HGDP:SARDINIAN population (allele frequency 0.056)
- Structural context available
- Cited in: Diagnosis and treatment of Wilson disease: an update. (PMID 18506894)
- Cited in: Wilson Disease. (PMID 20301685)