P768A (p.Pro768Ala) variant of ATP7B (Copper-transporting ATPase 2)
P768A (p.Pro768Ala) 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 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
P768A (p.Pro768Ala) variant details
- p.Pro768Ala
- rs2547714962
- ClinGen CA388021785
- ClinVar RCV004017132
- Uncertain significance
- Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.811
- REVEL 0.80
- ESM-1b 1.00
- AlphaMissense 0.70
- MetaLR 0.78
- MetaSVM 0.69
- CADD 25.90
- ClinVar: Uncertain significance (Wilson disease)
- EBI: Variant of uncertain significance (in WD)
- UniProt: Uncertain significance (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)