G666R (p.Gly666Arg) variant of ATP7A (Copper-transporting ATPase 1)
G666R (p.Gly666Arg) 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; Cutis laxa, X-linked. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes published literature.
G666R (p.Gly666Arg) variant details
- p.Gly666Arg
- rs797045344
- ClinGen CA277408
- ClinVar RCV000194915
- ClinVar RCV001330731
- Pathogenic
- Menkes kinky-hair syndrome; Cutis laxa, X-linked
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- AlphaMissense 0.98
- MetaLR 0.82
- MetaSVM 0.80
- PolyPhen-2 0.99
- SIFT 0.35
- EVE 0.44
- ClinVar: Pathogenic (Menkes kinky-hair syndrome; Cutis laxa, X-linked)
- EBI: Pathogenic (in MNK)
- UniProt: Pathogenic (in MNK)
- Cited in: Characterization of ATP7A missense mutants suggests a correlation between intracellular trafficking and severity of… (PMID 28389643)
- Cited in: ATP7A-Related Copper Transport Disorders. (PMID 20301586)