G727R (p.Gly727Arg) variant of ATP7A (Copper-transporting ATPase 1)
G727R (p.Gly727Arg) in ATP7A (Copper-transporting ATPase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; Menkes kinky-hair syndrome; Cutis laxa, X-linked. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and published literature.
G727R (p.Gly727Arg) variant details
- p.Gly727Arg
- rs72554644
- ClinGen CA277238
- ClinVar RCV000193991
- ClinVar RCV001857689
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; Menkes kinky-hair syndrome; Cutis laxa, X-linked
- Missense
- Variant Prioritization Score for Impact Estimate 0.739
- REVEL 0.74
- AlphaMissense 0.96
- MetaLR 0.67
- MetaSVM 0.53
- CADD 28.10
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; Menkes kinky-hair syndrome; Cutis laxa,)
- EBI: Pathogenic (in MNK)
- UniProt: Pathogenic (in MNK)
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Cited in: Characterization of ATP7A missense mutants suggests a correlation between intracellular trafficking and severity of… (PMID 28389643)
- Cited in: Identification of point mutations in 41 unrelated patients affected with Menkes disease. (PMID 8981948)