P1273S (p.Pro1273Ser) variant of ATP7B (Copper-transporting ATPase 2)
P1273S (p.Pro1273Ser) 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 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
P1273S (p.Pro1273Ser) variant details
- p.Pro1273Ser
- rs1250943420
- ClinGen CA388021894
- ClinVar RCV004015365
- TOPMed rs1250943420
- Uncertain significance
- Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.904
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 0.81
- MetaLR 0.95
- MetaSVM 1.10
- CADD 26.20
- ClinVar: Uncertain significance (Wilson disease)
- EBI: Variant of uncertain significance (in WD)
- UniProt: Uncertain significance (in WD)
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available
- Cited in: Diagnosis and treatment of Wilson disease: an update. (PMID 18506894)
- Cited in: Wilson Disease. (PMID 20301685)