M33R (p.Met33Arg) variant of ATP7B (Copper-transporting ATPase 2)
M33R (p.Met33Arg) 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 provided; Wilson disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
M33R (p.Met33Arg) variant details
- p.Met33Arg
- rs184868522
- ClinGen CA388045339
- ClinVar RCV002616520
- ClinVar RCV004725553
- Uncertain significance
- not provided; Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.71
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 20.90
- PolyPhen-2 0.07
- SIFT 0.06
- ClinVar: Uncertain significance (not provided; Wilson disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)