P1273Q (p.Pro1273Gln) variant of ATP7B (Copper-transporting ATPase 2)
P1273Q (p.Pro1273Gln) 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 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
P1273Q (p.Pro1273Gln) variant details
- p.Pro1273Gln
- rs758355520
- ClinGen CA388021893
- cosmic curated COSV10584
- ClinVar RCV000668789
- Pathogenic/Likely pathogenic
- Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.901
- REVEL 0.94
- ESM-1b 1.00
- AlphaMissense 0.87
- MetaLR 0.96
- MetaSVM 1.10
- CADD 26.60
- ClinVar: Pathogenic/Likely pathogenic (Wilson disease)
- EBI: Pathogenic (in WD)
- UniProt: Pathogenic (in WD)
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.6e-05)
- Structural context available
- Cited in: Diagnosis and treatment of Wilson disease: an update. (PMID 18506894)
- Cited in: Wilson Disease. (PMID 20301685)