T59S (p.Thr59Ser) variant of ATP7B (Copper-transporting ATPase 2)
T59S (p.Thr59Ser) 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 0.26 / 1. The record also includes population frequency data and structural context.
T59S (p.Thr59Ser) variant details
- p.Thr59Ser
- Ensembl rs1952037527
- Uncertain significance
- Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.29
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 8.40
- PolyPhen-2 0.02
- SIFT 0.27
- ClinVar: Uncertain significance (Wilson disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:TUSCAN population (allele frequency 1)
- Structural context available