M89L (p.Met89Leu) variant of ATP7B (Copper-transporting ATPase 2)
M89L (p.Met89Leu) 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 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
M89L (p.Met89Leu) variant details
- p.Met89Leu
- rs372516400
- ESP rs372516400
- ExAC rs372516400
- TOPMed rs372516400
- Uncertain significance
- Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.17
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 6.86
- PolyPhen-2 0.00
- SIFT 0.03
- ClinVar: Uncertain significance (Wilson disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available
- Cited in: Diagnosis and treatment of Wilson disease: an update. (PMID 18506894)
- Cited in: Wilson Disease. (PMID 20301685)