E60A (p.Glu60Ala) variant of ATL1 (Atlastin-1)
E60A (p.Glu60Ala) in ATL1 (Atlastin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary spastic paraplegia 3A. The record also includes published literature and structural context.
E60A (p.Glu60Ala) variant details
- p.Glu60Ala
- rs2504484865
- ClinGen CA389665713
- ClinVar RCV003056433
- Uncertain significance
- Hereditary spastic paraplegia 3A
- Missense
- ClinVar: Uncertain significance (Hereditary spastic paraplegia 3A)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)
- Cited in: Spastic Paraplegia 3A. (PMID 20862796)