A38D (p.Ala38Asp) variant of ATP7B (Copper-transporting ATPase 2)
A38D (p.Ala38Asp) 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 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
A38D (p.Ala38Asp) variant details
- p.Ala38Asp
- rs935963471
- ClinGen CA250067975
- ClinVar RCV001323991
- TOPMed rs935963471
- Uncertain significance
- Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.696
- REVEL 0.79
- ESM-1b 0.00
- AlphaMissense 0.46
- MetaLR 0.93
- MetaSVM 1.09
- CADD 25.20
- ClinVar: Uncertain significance (Wilson disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available
- Cited in: Diagnosis and treatment of Wilson disease: an update. (PMID 18506894)
- Cited in: Wilson Disease. (PMID 20301685)