A38V (p.Ala38Val) variant of ATP7B (Copper-transporting ATPase 2)
A38V (p.Ala38Val) 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 0.57 / 1. The record also includes published literature and structural context.
A38V (p.Ala38Val) variant details
- p.Ala38Val
- rs935963471
- ClinGen CA388045304
- ClinVar RCV001280024
- TOPMed rs935963471
- Uncertain significance
- Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.57
- ESM-1b 0.00
- AlphaMissense 0.46
- MetaLR 0.93
- MetaSVM 1.09
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Uncertain significance (Wilson disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Diagnosis and treatment of Wilson disease: an update. (PMID 18506894)
- Cited in: Wilson Disease. (PMID 20301685)