T894I (p.Thr894Ile) variant of ATP7B (Copper-transporting ATPase 2)
T894I (p.Thr894Ile) 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 provided; Wilson disease; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
T894I (p.Thr894Ile) variant details
- p.Thr894Ile
- rs1340729837
- ClinGen CA388034326
- ClinVar RCV001002164
- ClinVar RCV002261249
- Conflicting interpretations
- not provided; Wilson disease; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.901
- REVEL 0.94
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.94
- MetaSVM 1.08
- CADD 27.80
- ClinVar: Conflicting classifications of pathogenicity (not provided; Wilson disease; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available
- Cited in: Diagnosis and treatment of Wilson disease: an update. (PMID 18506894)
- Cited in: Wilson Disease. (PMID 20301685)