S1390P (p.Ser1390Pro) variant of ATP7A (Copper-transporting ATPase 1)
S1390P (p.Ser1390Pro) 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 record also includes published literature.
S1390P (p.Ser1390Pro) variant details
- p.Ser1390Pro
- rs2522425533
- ClinGen CA413605829
- ClinVar RCV002472153
- Likely pathogenic
- Menkes kinky-hair syndrome
- Missense
- 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)