T9I (p.Thr9Ile) variant of ATP7B (Copper-transporting ATPase 2)
T9I (p.Thr9Ile) 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 Wilson disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
T9I (p.Thr9Ile) variant details
- p.Thr9Ile
- rs1954025092
- ClinGen CA388047639
- ClinVar RCV003100179
- TOPMed rs1954025092
- Uncertain significance
- Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 14.50
- PolyPhen-2 0.00
- SIFT 0.12
- ClinVar: Uncertain significance (Wilson disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available
- Cited in: Diagnosis and treatment of Wilson disease: an update. (PMID 18506894)
- Cited in: Wilson Disease. (PMID 20301685)