T59I (p.Thr59Ile) variant of ATP7B (Copper-transporting ATPase 2)
T59I (p.Thr59Ile) in ATP7B (Copper-transporting ATPase 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Wilson disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
T59I (p.Thr59Ile) variant details
- p.Thr59Ile
- rs768112104
- ClinGen CA6989604
- ClinVar RCV003084261
- ClinVar RCV003481391
- Uncertain significance
- not provided; Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.38
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 14.20
- PolyPhen-2 0.69
- SIFT 0.06
- ClinVar: Uncertain significance (not provided; Wilson disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CDX population (allele frequency 0.017)
- Structural context available
- Cited in: Diagnosis and treatment of Wilson disease: an update. (PMID 18506894)
- Cited in: Wilson Disease. (PMID 20301685)