P767L (p.Pro767Leu) variant of ATP7B (Copper-transporting ATPase 2)
P767L (p.Pro767Leu) 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 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
P767L (p.Pro767Leu) variant details
- p.Pro767Leu
- rs776668666
- ClinGen CA6989067
- ClinVar RCV000806274
- ClinVar RCV002223947
- Pathogenic/Likely pathogenic
- not provided; Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.902
- REVEL 0.94
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.93
- MetaSVM 1.06
- CADD 29.10
- ClinVar: Pathogenic/Likely pathogenic (not provided; Wilson disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 0.0015)
- Structural context available
- Cited in: Diagnosis and treatment of Wilson disease: an update. (PMID 18506894)
- Cited in: Wilson Disease. (PMID 20301685)