P768L (p.Pro768Leu) variant of ATP7B (Copper-transporting ATPase 2)
P768L (p.Pro768Leu) 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.
P768L (p.Pro768Leu) variant details
- p.Pro768Leu
- rs1057516844
- ClinGen CA16041671
- ClinVar RCV000410970
- TOPMed rs1057516844
- Uncertain significance
- Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.876
- REVEL 0.90
- ESM-1b 1.00
- AlphaMissense 0.94
- MetaLR 0.84
- MetaSVM 0.87
- CADD 28.70
- ClinVar: Uncertain significance (Wilson disease)
- EBI: Pathogenic (in WD)
- UniProt: Pathogenic (in WD)
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available
- Cited in: Diagnosis and treatment of Wilson disease: an update. (PMID 18506894)
- Cited in: Wilson Disease. (PMID 20301685)