D859G (p.Asp859Gly) variant of ATP7A (Copper-transporting ATPase 1)
D859G (p.Asp859Gly) in ATP7A (Copper-transporting ATPase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature.
D859G (p.Asp859Gly) variant details
- p.Asp859Gly
- rs2077859082
- ClinGen CA413601081
- ClinVar RCV001194652
- Ensembl rs2077859082
- Pathogenic
- Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.943
- AlphaMissense 0.91
- MetaLR 0.99
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.84
- ClinVar: Pathogenic (Cutis laxa, X-linked; X-linked distal spinal muscular atrophy ty)
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: ATP7A-Related Copper Transport Disorders. (PMID 20301586)
- Cited in: Clinical utility gene card for: Menkes disease. (PMID 21487442)