S1272C (p.Ser1272Cys) variant of ATP7B (Copper-transporting ATPase 2)
S1272C (p.Ser1272Cys) 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 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
S1272C (p.Ser1272Cys) variant details
- p.Ser1272Cys
- rs1957045038
- ClinGen CA388021913
- ClinVar RCV004013978
- Ensembl rs1957045038
- Uncertain significance
- Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.878
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 0.76
- MetaLR 0.94
- MetaSVM 1.09
- CADD 27.00
- ClinVar: Uncertain significance (Wilson disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BIAKA population (allele frequency 0.023)
- Structural context available
- Cited in: Diagnosis and treatment of Wilson disease: an update. (PMID 18506894)
- Cited in: Wilson Disease. (PMID 20301685)