T888P (p.Thr888Pro) variant of ATP7B (Copper-transporting ATPase 2)
T888P (p.Thr888Pro) 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 not provided; Wilson disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
T888P (p.Thr888Pro) variant details
- p.Thr888Pro
- rs1455758826
- ClinGen CA388034454
- ClinVar RCV000796453
- ClinVar RCV004721608
- Pathogenic/Likely pathogenic
- not provided; Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.832
- REVEL 0.93
- ESM-1b 1.00
- AlphaMissense 0.83
- CADD 26.30
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Wilson disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Ashkenazi Jewish population (allele frequency 0.0052)
- Structural context available
- Cited in: Diagnosis and treatment of Wilson disease: an update. (PMID 18506894)
- Cited in: Wilson Disease. (PMID 20301685)