E15D (p.Glu15Asp) variant of ATP7A (Copper-transporting ATPase 1)
E15D (p.Glu15Asp) 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 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
E15D (p.Glu15Asp) variant details
- p.Glu15Asp
- rs2522252226
- ClinGen CA413597697
- ClinVar RCV002298275
- ClinVar RCV006327462
- Uncertain significance
- X-linked distal spinal muscular atrophy type 3; Menkes kinky-hair syndrome; Cuti
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.30
- CADD 10.80
- PolyPhen-2 0.02
- SIFT 0.37
- ClinVar: Uncertain significance (X-linked distal spinal muscular atrophy type 3; Menkes kinky-hai)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.4e-06)
- Structural context available
- Cited in: ATP7A-Related Copper Transport Disorders. (PMID 20301586)
- Cited in: Clinical utility gene card for: Menkes disease. (PMID 21487442)