C69F (p.Cys69Phe) variant of ATP7B (Copper-transporting ATPase 2)
C69F (p.Cys69Phe) 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 0.80 / 1. The record also includes published literature and structural context.
C69F (p.Cys69Phe) variant details
- p.Cys69Phe
- rs2140111993
- ClinGen CA388044982
- ClinVar RCV002814464
- Uncertain significance
- Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.798
- ESM-1b 1.00
- AlphaMissense 0.25
- MetaLR 0.97
- MetaSVM 1.08
- PolyPhen-2 0.05
- SIFT 0.03
- 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)