R79K (p.Arg79Lys) variant of ATP7B (Copper-transporting ATPase 2)
R79K (p.Arg79Lys) in ATP7B (Copper-transporting ATPase 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Wilson disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
R79K (p.Arg79Lys) variant details
- p.Arg79Lys
- rs375470066
- ClinGen CA250067779
- ClinVar RCV002470334
- ESP rs375470066
- Conflicting interpretations
- Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 0.38
- PolyPhen-2 0.01
- SIFT 0.58
- ClinVar: Conflicting classifications of pathogenicity (Wilson disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BERGAMOITALIAN population (allele frequency 0.045)
- Structural context available
- Cited in: Diagnosis and treatment of Wilson disease: an update. (PMID 18506894)
- Cited in: Wilson Disease. (PMID 20301685)