A1362V (p.Ala1362Val) variant of ATP7A (Copper-transporting ATPase 1)
A1362V (p.Ala1362Val) 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 0.92 / 1. The record also includes published literature.
A1362V (p.Ala1362Val) variant details
- p.Ala1362Val
- rs2149112273
- ClinGen CA413605638
- ClinVar RCV001805754
- Ensembl rs2149112273
- Pathogenic/Likely pathogenic
- Menkes kinky-hair syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.92
- AlphaMissense 0.95
- MetaLR 0.99
- MetaSVM 1.01
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.86
- ClinVar: Pathogenic/Likely pathogenic (Menkes kinky-hair syndrome)
- EBI: Pathogenic (in MNK)
- UniProt: Pathogenic (in MNK)
- Cited in: Defective copper-induced trafficking and localization of the Menkes protein in patients with mild and copper-treated… (PMID 10401004)
- Cited in: The copper-transporting capacity of ATP7A mutants associated with Menkes disease is ameliorated by COMMD1 as a result… (PMID 21667063)