I76T (p.Ile76Thr) variant of ATP7B (Copper-transporting ATPase 2)
I76T (p.Ile76Thr) 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 specified; Wilson disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
I76T (p.Ile76Thr) variant details
- p.Ile76Thr
- rs747911411
- ClinGen CA6989600
- ClinVar RCV001301742
- ClinVar RCV005437060
- Uncertain significance
- not specified; Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- REVEL 0.85
- ESM-1b 1.00
- AlphaMissense 0.26
- CADD 24.30
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Uncertain significance (not specified; Wilson disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:PATHAN population (allele frequency 0.14)
- Structural context available
- Cited in: Diagnosis and treatment of Wilson disease: an update. (PMID 18506894)
- Cited in: Wilson Disease. (PMID 20301685)