N1304S (p.Asn1304Ser) variant of ATP7A (Copper-transporting ATPase 1)
N1304S (p.Asn1304Ser) 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 not provided; Menkes kinky-hair syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
N1304S (p.Asn1304Ser) variant details
- p.Asn1304Ser
- rs151340632
- ClinGen CA256071
- ClinVar RCV000012559
- ClinVar RCV000194377
- Pathogenic
- not provided; Menkes kinky-hair syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.884
- AlphaMissense 0.61
- MetaLR 0.97
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.87
- ClinVar: Pathogenic (not provided; Menkes kinky-hair syndrome)
- EBI: Pathogenic (in OHS)
- UniProt: Pathogenic (in OHS)
- Structural context available
- Cited in: Functional copper transport explains neurologic sparing in occipital horn syndrome. (PMID 17108763)
- Cited in: The copper-transporting capacity of ATP7A mutants associated with Menkes disease is ameliorated by COMMD1 as a result… (PMID 21667063)