D78G (p.Asp78Gly) variant of ATP7B (Copper-transporting ATPase 2)
D78G (p.Asp78Gly) in ATP7B (Copper-transporting ATPase 2) is a missense change. Clinical records from ClinVar 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 0.25 / 1. The record also includes structural context.
D78G (p.Asp78Gly) variant details
- p.Asp78Gly
- Ensembl rs2140110948
- Uncertain significance
- Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.22
- MetaSVM -0.85
- SIFT 1.00
- ClinVar: Uncertain significance (Wilson disease)
- UniProt: Uncertain significance
- Structural context available