P1273L (p.Pro1273Leu) variant of ATP7B (Copper-transporting ATPase 2)
P1273L (p.Pro1273Leu) 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 not provided; 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.
P1273L (p.Pro1273Leu) variant details
- p.Pro1273Leu
- rs758355520
- ClinGen CA274408
- ClinVar RCV000169558
- ClinVar RCV001310695
- Pathogenic/Likely pathogenic
- not provided; Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.881
- REVEL 0.93
- ESM-1b 1.00
- AlphaMissense 0.55
- MetaLR 0.96
- MetaSVM 1.10
- CADD 27.50
- ClinVar: Pathogenic/Likely pathogenic (not provided; Wilson disease)
- EBI: Pathogenic (in WD)
- UniProt: Pathogenic (in WD)
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)
- Structural context available
- Cited in: Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease. (PMID 15967699)
- Cited in: Frameshift and nonsense mutations in the gene for ATPase7B are associated with severe impairment of copper metabolism… (PMID 16283883)