A1362D (p.Ala1362Asp) variant of ATP7A (Copper-transporting ATPase 1)
A1362D (p.Ala1362Asp) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature.
A1362D (p.Ala1362Asp) variant details
- p.Ala1362Asp
- rs2149112273
- ClinGen CA413605636
- ClinVar RCV003312877
- 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: Likely pathogenic (Menkes kinky-hair syndrome)
- EBI: Likely pathogenic (in MNK)
- UniProt: Likely pathogenic (in MNK)
- Cited in: ATP7A-Related Copper Transport Disorders. (PMID 20301586)
- Cited in: Clinical utility gene card for: Menkes disease. (PMID 21487442)