G1315R (p.Gly1315Arg) variant of ATP7A (Copper-transporting ATPase 1)
G1315R (p.Gly1315Arg) 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 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.
G1315R (p.Gly1315Arg) variant details
- p.Gly1315Arg
- rs797045390
- ClinGen CA276980
- cosmic curated COSV58449
- ClinVar RCV000192535
- Pathogenic/Likely pathogenic
- Menkes kinky-hair syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.957
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.86
- ClinVar: Pathogenic/Likely pathogenic (Menkes kinky-hair syndrome)
- EBI: Pathogenic (in MNK)
- UniProt: Pathogenic (in MNK)
- Cited in: Identification and analysis of 21 novel disease-causing amino acid substitutions in the conserved part of ATP7A. (PMID 15981243)
- Cited in: Characterization of ATP7A missense mutants suggests a correlation between intracellular trafficking and severity of… (PMID 28389643)