Y44C (p.Tyr44Cys) variant of ATP7B (Copper-transporting ATPase 2)
Y44C (p.Tyr44Cys) 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 not specified; Wilson disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
Y44C (p.Tyr44Cys) variant details
- p.Tyr44Cys
- rs1209726590
- ClinGen CA388045264
- ClinVar RCV001280023
- ClinVar RCV002307719
- Uncertain significance
- not specified; Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- REVEL 0.73
- ESM-1b 0.00
- AlphaMissense 0.13
- CADD 22.10
- PolyPhen-2 0.91
- SIFT 0.00
- ClinVar: Uncertain significance (not specified; Wilson disease)
- EBI: Variant of uncertain significance (in WD)
- UniProt: Uncertain significance (in WD)
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Diagnosis and treatment of Wilson disease: an update. (PMID 18506894)
- Cited in: Wilson Disease. (PMID 20301685)