G1019D (p.Gly1019Asp) variant of ATP7A (Copper-transporting ATPase 1)
G1019D (p.Gly1019Asp) 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 0.85 / 1. The record also includes published literature.
G1019D (p.Gly1019Asp) variant details
- p.Gly1019Asp
- rs72554652
- ClinGen CA256069
- ClinVar RCV000012555
- UniProt VAR 000702
- Pathogenic
- Menkes kinky-hair syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.854
- AlphaMissense 0.98
- MetaLR 0.88
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.65
- ClinVar: Pathogenic (Menkes kinky-hair syndrome)
- EBI: Pathogenic (in MNK)
- UniProt: Pathogenic (in MNK)
- Cited in: A conditional mutation affecting localization of the Menkes disease copper ATPase. Suppression by copper… (PMID 12221109)
- Cited in: Identification of point mutations in 41 unrelated patients affected with Menkes disease. (PMID 8981948)