V112F (p.Val112Phe) variant of ATP7B (Copper-transporting ATPase 2)
V112F (p.Val112Phe) 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 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
V112F (p.Val112Phe) variant details
- p.Val112Phe
- rs2547823720
- ClinGen CA388044374
- ClinVar RCV002304306
- Uncertain significance
- Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.55
- ESM-1b 1.00
- AlphaMissense 0.19
- CADD 16.60
- PolyPhen-2 0.71
- SIFT 0.00
- ClinVar: Uncertain significance (Wilson disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Diagnosis and treatment of Wilson disease: an update. (PMID 18506894)
- Cited in: Wilson Disease. (PMID 20301685)