Q4P (p.Gln4Pro) variant of ATP7B (Copper-transporting ATPase 2)
Q4P (p.Gln4Pro) 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; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes published literature and structural context.
Q4P (p.Gln4Pro) variant details
- p.Gln4Pro
- rs781780227
- ClinGen CA388047703
- ClinVar RCV001264581
- ClinVar RCV002542842
- Uncertain significance
- Wilson disease; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.70
- MetaSVM -0.14
- PolyPhen-2 0.00
- SIFT 0.02
- ClinVar: Uncertain significance (Wilson disease; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Diagnosis and treatment of Wilson disease: an update. (PMID 18506894)
- Cited in: Wilson Disease. (PMID 20301685)