S55F (p.Ser55Phe) variant of ATP7B (Copper-transporting ATPase 2)
S55F (p.Ser55Phe) 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 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
S55F (p.Ser55Phe) variant details
- p.Ser55Phe
- rs574071838
- ClinGen CA6989607
- ClinVar RCV004008244
- 1000Genomes rs574071838
- Uncertain significance
- Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.36
- ESM-1b 0.78
- AlphaMissense 0.10
- CADD 9.05
- PolyPhen-2 0.14
- SIFT 0.16
- ClinVar: Uncertain significance (Wilson disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Diagnosis and treatment of Wilson disease: an update. (PMID 18506894)
- Cited in: Wilson Disease. (PMID 20301685)