G1047E (p.Gly1047Glu) variant of ATP7A (Copper-transporting ATPase 1)
G1047E (p.Gly1047Glu) in ATP7A (Copper-transporting ATPase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Menkes kinky-hair syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature.
G1047E (p.Gly1047Glu) variant details
- p.Gly1047Glu
- rs1557237050
- ClinGen CA413603485
- ClinVar RCV000502988
- Ensembl rs1557237050
- Likely pathogenic
- Menkes kinky-hair syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.956
- AlphaMissense 0.94
- MetaLR 0.99
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.02
- EVE 0.87
- ClinVar: Likely pathogenic (Menkes kinky-hair syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Cited in: ATP7A-Related Copper Transport Disorders. (PMID 20301586)
- Cited in: Clinical utility gene card for: Menkes disease. (PMID 21487442)