G1017R (p.Gly1017Arg) variant of ATP7A (Copper-transporting ATPase 1)
G1017R (p.Gly1017Arg) 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 0.91 / 1. The record also includes published literature.
G1017R (p.Gly1017Arg) variant details
- p.Gly1017Arg
- rs1557236754
- ClinGen CA413603274
- ClinVar RCV000626101
- Ensembl rs1557236754
- Likely pathogenic
- Menkes kinky-hair syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.908
- AlphaMissense 0.97
- MetaLR 0.88
- MetaSVM 0.95
- PolyPhen-2 1.00
- SIFT 0.00
- 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)