T61I (p.Thr61Ile) variant of ATP7A (Copper-transporting ATPase 1)
T61I (p.Thr61Ile) in ATP7A (Copper-transporting ATPase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscula. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
T61I (p.Thr61Ile) variant details
- p.Thr61Ile
- rs1293902838
- ClinGen CA413598936
- ClinVar RCV003815298
- TOPMed rs1293902838
- Uncertain significance
- Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscula
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.40
- CADD 16.50
- ClinVar: Uncertain significance (Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked dista)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available
- Cited in: ATP7A-Related Copper Transport Disorders. (PMID 20301586)
- Cited in: Clinical utility gene card for: Menkes disease. (PMID 21487442)