T1288R (p.Thr1288Arg) variant of ATP7B (Copper-transporting ATPase 2)
T1288R (p.Thr1288Arg) in ATP7B (Copper-transporting ATPase 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Wilson disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
T1288R (p.Thr1288Arg) variant details
- p.Thr1288Arg
- rs373748155
- ClinGen CA388021569
- cosmic curated COSV54437
- ClinVar RCV000672804
- Pathogenic/Likely pathogenic
- Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.907
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 0.86
- MetaLR 0.97
- MetaSVM 1.09
- CADD 25.10
- ClinVar: Pathogenic/Likely pathogenic (Wilson disease)
- EBI: Pathogenic (in WD)
- UniProt: Pathogenic (in WD)
- Most common in the HGDP:BIAKA population (allele frequency 0.023)
- Structural context available
- Cited in: Diagnosis and treatment of Wilson disease: an update. (PMID 18506894)
- Cited in: Wilson Disease. (PMID 20301685)