I8T (p.Ile8Thr) variant of ATP7B (Copper-transporting ATPase 2)
I8T (p.Ile8Thr) 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 0.19 / 1. The record also includes population frequency data and structural context.
I8T (p.Ile8Thr) variant details
- p.Ile8Thr
- TOPMed rs1246224304
- gnomAD rs1246224304
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.192
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 11.90
- PolyPhen-2 0.02
- SIFT 0.52
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available