T601I (p.Thr601Ile) variant of ATP7B (Copper-transporting ATPase 2)
T601I (p.Thr601Ile) 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 0.85 / 1. The record also includes population frequency data and structural context.
T601I (p.Thr601Ile) variant details
- p.Thr601Ile
- Ensembl rs1951468040
- Uncertain significance
- Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.849
- REVEL 0.84
- ESM-1b 1.00
- AlphaMissense 0.81
- MetaLR 0.88
- MetaSVM 0.95
- CADD 27.10
- ClinVar: Uncertain significance (Wilson disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CHB population (allele frequency 0.015)
- Structural context available