T1046I (p.Thr1046Ile) variant of ATP7A (Copper-transporting ATPase 1)
T1046I (p.Thr1046Ile) 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 not provided; Menkes kinky-hair syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature.
T1046I (p.Thr1046Ile) variant details
- p.Thr1046Ile
- rs1064796648
- ClinGen CA16621511
- ClinVar RCV000484292
- ClinVar RCV001265560
- Likely pathogenic
- not provided; Menkes kinky-hair syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.951
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.85
- ClinVar: Likely pathogenic (not provided; 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)