G922V (p.Gly922Val) variant of ATP7B (Copper-transporting ATPase 2)
G922V (p.Gly922Val) in ATP7B (Copper-transporting ATPase 2) is a missense change. Clinical records from ClinVar and UniProt describe it as conflicting interpretations in the context of not specified; Wilson disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes structural context.
G922V (p.Gly922Val) variant details
- p.Gly922Val
- ESP rs371254644
- ExAC rs371254644
- TOPMed rs371254644
- gnomAD rs371254644
- Conflicting interpretations
- not specified; Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.817
- REVEL 0.78
- ESM-1b 1.00
- AlphaMissense 0.68
- MetaLR 0.86
- MetaSVM 0.84
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not specified; Wilson disease)
- UniProt: Conflicting interpretations
- Structural context available