E1064K (p.Glu1064Lys) variant of ATP7B (Copper-transporting ATPase 2)
E1064K (p.Glu1064Lys) in ATP7B (Copper-transporting ATPase 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Wilson disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
E1064K (p.Glu1064Lys) variant details
- p.Glu1064Lys
- rs376910645
- ClinGen CA6988782
- cosmic curated COSV54434
- ClinVar RCV000665883
- Pathogenic/Likely pathogenic
- not provided; Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.906
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 0.94
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Wilson disease)
- EBI: Pathogenic (in WD)
- UniProt: Pathogenic (in WD)
- Most common in the HGDP:BIAKA population (allele frequency 0.023)
- Structural context available
- Cited in: Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease. (PMID 15967699)
- Cited in: Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin. (PMID 17949296)