M1359I (p.Met1359Ile) variant of ATP7B (Copper-transporting ATPase 2)
M1359I (p.Met1359Ile) in ATP7B (Copper-transporting ATPase 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Wilson disease; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
M1359I (p.Met1359Ile) variant details
- p.Met1359Ile
- rs759551693
- ExAC rs759551693
- TOPMed rs759551693
- gnomAD rs759551693
- Conflicting interpretations
- Wilson disease; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.918
- REVEL 0.97
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.97
- CADD 25.70
- ClinVar: Conflicting classifications of pathogenicity (Wilson disease; not provided)
- EBI: Pathogenic (in WD)
- UniProt: Pathogenic (in WD)
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available
- Cited in: New mutations in the Wilson disease gene, ATP7B: implications for molecular testing. (PMID 18373411)
- Cited in: The His1069Gln mutation in the ATP7B gene in Russian patients with Wilson disease. (PMID 10051024)