L93R (p.Leu93Arg) variant of ATP7B (Copper-transporting ATPase 2)
L93R (p.Leu93Arg) 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 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
L93R (p.Leu93Arg) variant details
- p.Leu93Arg
- rs2547824301
- ClinGen CA388044665
- ClinVar RCV004014557
- Uncertain significance
- Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.752
- REVEL 0.84
- ESM-1b 1.00
- AlphaMissense 0.15
- CADD 24.30
- PolyPhen-2 0.65
- SIFT 0.03
- ClinVar: Uncertain significance (Wilson disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BIAKA population (allele frequency 0.023)
- Structural context available
- Cited in: Diagnosis and treatment of Wilson disease: an update. (PMID 18506894)
- Cited in: Wilson Disease. (PMID 20301685)