A990S (p.Ala990Ser) variant of ATP7B (Copper-transporting ATPase 2)
A990S (p.Ala990Ser) 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 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
A990S (p.Ala990Ser) variant details
- p.Ala990Ser
- rs1297798449
- ClinGen CA388032239
- ClinVar RCV004017121
- TOPMed rs1297798449
- Uncertain significance
- Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.716
- REVEL 0.82
- ESM-1b 0.00
- AlphaMissense 0.52
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Wilson disease)
- EBI: Variant of uncertain significance (in WD)
- UniProt: Uncertain significance (in WD)
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available
- Cited in: Diagnosis and treatment of Wilson disease: an update. (PMID 18506894)
- Cited in: Wilson Disease. (PMID 20301685)