V23I (p.Val23Ile) variant of ATP7A (Copper-transporting ATPase 1)
V23I (p.Val23Ile) in ATP7A (Copper-transporting ATPase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of X-linked distal spinal muscular atrophy type 3; Menkes kinky-hair syndrome; Cuti. The record also includes published literature and structural context.
V23I (p.Val23Ile) variant details
- p.Val23Ile
- rs2522252336
- ClinGen CA413597748
- ClinVar RCV002303483
- Uncertain significance
- X-linked distal spinal muscular atrophy type 3; Menkes kinky-hair syndrome; Cuti
- Missense
- ClinVar: Uncertain significance (X-linked distal spinal muscular atrophy type 3; Menkes kinky-hai)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: ATP7A-Related Copper Transport Disorders. (PMID 20301586)
- Cited in: Clinical utility gene card for: Menkes disease. (PMID 21487442)