Y44N (p.Tyr44Asn) variant of ATP7B (Copper-transporting ATPase 2)
Y44N (p.Tyr44Asn) 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 0.54 / 1. The record also includes published literature and structural context.
Y44N (p.Tyr44Asn) variant details
- p.Tyr44Asn
- rs1566605396
- ClinGen CA388045267
- ClinVar RCV000755710
- UniProt VAR 076729
- Uncertain significance
- Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.539
- ESM-1b 0.00
- AlphaMissense 0.25
- MetaLR 0.92
- MetaSVM 1.08
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (Wilson disease)
- EBI: Variant of uncertain significance (in WD)
- UniProt: Uncertain significance (in WD)
- Structural context available
- Cited in: Mutational analysis of ATP7B in north Chinese patients with Wilson disease. (PMID 23235335)
- Cited in: The His1069Gln mutation in the ATP7B gene in Russian patients with Wilson disease. (PMID 10051024)