V57M (p.Val57Met) variant of ATP7B (Copper-transporting ATPase 2)
V57M (p.Val57Met) 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 0.33 / 1. The record also includes published literature and structural context.
V57M (p.Val57Met) variant details
- p.Val57Met
- rs1008737431
- ClinGen CA250067915
- ClinVar RCV002834585
- Ensembl rs1008737431
- Uncertain significance
- Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.48
- MetaSVM -0.39
- PolyPhen-2 0.01
- SIFT 0.07
- 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)