G727E (p.Gly727Glu) variant of ATP7A (Copper-transporting ATPase 1)
G727E (p.Gly727Glu) 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 X-linked distal spinal muscular atrophy type 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes published literature.
G727E (p.Gly727Glu) variant details
- p.Gly727Glu
- rs2149095964
- ClinGen CA413598603
- ClinVar RCV002248976
- Ensembl rs2149095964
- Likely pathogenic
- X-linked distal spinal muscular atrophy type 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.763
- AlphaMissense 0.97
- MetaLR 0.70
- MetaSVM 0.61
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.81
- ClinVar: Likely pathogenic (X-linked distal spinal muscular atrophy type 3)
- EBI: Likely pathogenic (in MNK)
- UniProt: Likely pathogenic (in MNK)
- Cited in: ATP7A-Related Copper Transport Disorders. (PMID 20301586)