E1064A (p.Glu1064Ala) variant of ATP7B (Copper-transporting ATPase 2)
E1064A (p.Glu1064Ala) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
E1064A (p.Glu1064Ala) variant details
- p.Glu1064Ala
- rs374094065
- ClinGen CA6988781
- ClinVar RCV000411652
- ClinVar RCV001091637
- Pathogenic/Likely pathogenic
- not provided; Wilson disease; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.862
- REVEL 0.98
- ESM-1b 1.00
- AlphaMissense 0.87
- CADD 28.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Wilson disease; Inborn genetic diseases)
- EBI: Pathogenic (in WD)
- UniProt: Pathogenic (in WD)
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available
- Cited in: Difference in stability of the N-domain underlies distinct intracellular properties of the E1064A and H1069Q mutants of… (PMID 21398519)
- Cited in: Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype… (PMID 9311736)