Q724H (p.Gln724His) variant of ATP7A (Copper-transporting ATPase 1)
Q724H (p.Gln724His) 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 0.88 / 1. The record also includes published literature.
Q724H (p.Gln724His) variant details
- p.Gln724His
- rs797045348
- ClinGen CA277346
- ClinVar RCV000194586
- Ensembl rs797045348
- Likely pathogenic
- Menkes kinky-hair syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.878
- AlphaMissense 0.86
- MetaLR 0.95
- MetaSVM 1.07
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.85
- 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)