Q1267L (p.Gln1267Leu) variant of ATP7A (Copper-transporting ATPase 1)
Q1267L (p.Gln1267Leu) 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 0.80 / 1. The record also includes published literature.
Q1267L (p.Gln1267Leu) variant details
- p.Gln1267Leu
- rs797045385
- ClinGen CA277294
- ClinVar RCV000194316
- Ensembl rs797045385
- Likely pathogenic
- Menkes kinky-hair syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.802
- AlphaMissense 0.64
- MetaLR 0.88
- MetaSVM 0.95
- PolyPhen-2 0.73
- SIFT 0.00
- EVE 0.74
- 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)