D118Y (p.Asp118Tyr) variant of ATP7B (Copper-transporting ATPase 2)
D118Y (p.Asp118Tyr) 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 0.72 / 1. The record also includes population frequency data and structural context.
D118Y (p.Asp118Tyr) variant details
- p.Asp118Tyr
- ExAC rs769655497
- TOPMed rs769655497
- gnomAD rs769655497
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.717
- REVEL 0.73
- ESM-1b 1.00
- AlphaMissense 0.13
- CADD 26.10
- PolyPhen-2 0.99
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ACB population (allele frequency 0.038)
- Structural context available