G1186D (p.Gly1186Asp) variant of ATP7B (Copper-transporting ATPase 2)
G1186D (p.Gly1186Asp) 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 0.77 / 1. The record also includes population frequency data and structural context.
G1186D (p.Gly1186Asp) variant details
- p.Gly1186Asp
- ExAC rs766800003
- gnomAD rs766800003
- Uncertain significance
- Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- REVEL 0.78
- ESM-1b 0.66
- AlphaMissense 0.33
- MetaLR 0.96
- MetaSVM 1.10
- CADD 24.40
- ClinVar: Uncertain significance (Wilson disease)
- EBI: Variant of uncertain significance (in WD)
- UniProt: Uncertain significance (in WD)
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available