E60Q (p.Glu60Gln) variant of ATL1 (Atlastin-1)
E60Q (p.Glu60Gln) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes published literature and structural context.
E60Q (p.Glu60Gln) variant details
- p.Glu60Gln
- rs2140201888
- ClinGen CA389665711
- ClinVar RCV001950632
- Ensembl rs2140201888
- Uncertain significance
- Hereditary spastic paraplegia 3A
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- AlphaMissense 0.18
- MetaLR 0.24
- MetaSVM -0.74
- PolyPhen-2 0.03
- SIFT 0.07
- MutPred 0.46
- 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)