D72Y (p.Asp72Tyr) variant of ATP7A (Copper-transporting ATPase 1)
D72Y (p.Asp72Tyr) 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 X-linked distal spinal muscular atrophy type 3; Menkes kinky-hair syndrome; Cuti. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes published literature and structural context.
D72Y (p.Asp72Tyr) variant details
- p.Asp72Tyr
- rs2077650482
- ClinGen CA413599057
- ClinVar RCV001321115
- Ensembl rs2077650482
- Uncertain significance
- X-linked distal spinal muscular atrophy type 3; Menkes kinky-hair syndrome; Cuti
- Missense
- Variant Prioritization Score for Impact Estimate 0.675
- AlphaMissense 0.18
- MetaLR 0.80
- MetaSVM 0.75
- PolyPhen-2 0.97
- SIFT 0.00
- MutPred 0.58
- ClinVar: Uncertain significance (X-linked distal spinal muscular atrophy type 3; Menkes kinky-hai)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: ATP7A-Related Copper Transport Disorders. (PMID 20301586)
- Cited in: Clinical utility gene card for: Menkes disease. (PMID 21487442)