D1044E (p.Asp1044Glu) variant of ATP7A (Copper-transporting ATPase 1)
D1044E (p.Asp1044Glu) in ATP7A (Copper-transporting ATPase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Menkes kinky-hair syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature.
D1044E (p.Asp1044Glu) variant details
- p.Asp1044Glu
- rs797045370
- ClinGen CA277334
- ClinVar RCV000194489
- Ensembl rs797045370
- Pathogenic
- Menkes kinky-hair syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.932
- AlphaMissense 0.99
- MetaLR 1.00
- MetaSVM 0.85
- PolyPhen-2 0.79
- SIFT 0.00
- EVE 0.87
- ClinVar: Pathogenic (Menkes kinky-hair syndrome)
- EBI: Pathogenic (in MNK)
- UniProt: Pathogenic (in MNK)
- Cited in: ATP7A-Related Copper Transport Disorders. (PMID 20301586)
- Cited in: Clinical utility gene card for: Menkes disease. (PMID 21487442)