C1079R (p.Cys1079Arg) variant of ATP7B (Copper-transporting ATPase 2)
C1079R (p.Cys1079Arg) 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 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
C1079R (p.Cys1079Arg) variant details
- p.Cys1079Arg
- rs1376645882
- ClinGen CA388029778
- ClinVar RCV001317345
- ClinVar RCV001844283
- Uncertain significance
- not specified; Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.851
- REVEL 0.94
- ESM-1b 1.00
- AlphaMissense 0.98
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified; 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)