I76F (p.Ile76Phe) variant of ATP7B (Copper-transporting ATPase 2)
I76F (p.Ile76Phe) 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 0.57 / 1. The record also includes published literature and structural context.
I76F (p.Ile76Phe) variant details
- p.Ile76Phe
- rs200642204
- ClinGen CA388044874
- ClinVar RCV004010156
- ESP rs200642204
- Uncertain significance
- Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- ESM-1b 1.00
- AlphaMissense 0.08
- MetaLR 0.57
- MetaSVM 0.06
- PolyPhen-2 0.14
- SIFT 0.06
- ClinVar: Uncertain significance (Wilson disease)
- 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)