T1288M (p.Thr1288Met) variant of ATP7B (Copper-transporting ATPase 2)
T1288M (p.Thr1288Met) 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 not specified; Wilson disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
T1288M (p.Thr1288Met) variant details
- p.Thr1288Met
- rs373748155
- ClinGen CA6988555
- cosmic curated COSV54434
- ClinVar RCV000670692
- Conflicting interpretations
- not specified; Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.865
- REVEL 0.92
- ESM-1b 1.00
- AlphaMissense 0.45
- MetaLR 0.95
- MetaSVM 1.10
- CADD 24.90
- ClinVar: Conflicting classifications of pathogenicity (not specified; Wilson disease)
- EBI: Pathogenic (in WD)
- UniProt: Pathogenic (in WD)
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available
- Cited in: Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin. (PMID 17949296)
- Cited in: The His1069Gln mutation in the ATP7B gene in Russian patients with Wilson disease. (PMID 10051024)