T59N (p.Thr59Asn) variant of ATP7B (Copper-transporting ATPase 2)
T59N (p.Thr59Asn) in ATP7B (Copper-transporting ATPase 2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
T59N (p.Thr59Asn) variant details
- p.Thr59Asn
- ExAC rs768112104
- TOPMed rs768112104
- gnomAD rs768112104
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.28
- ESM-1b 0.78
- AlphaMissense 0.10
- CADD 12.30
- PolyPhen-2 0.52
- SIFT 0.07
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CHB population (allele frequency 0.015)
- Structural context available