T156I (p.Thr156Ile) variant of ATL1 (Atlastin-1)
T156I (p.Thr156Ile) in ATL1 (Atlastin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hereditary spastic paraplegia 3A; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes published literature and structural context.
T156I (p.Thr156Ile) variant details
- p.Thr156Ile
- rs137852657
- ClinGen CA342181
- ClinVar RCV000020721
- ClinVar RCV000713455
- Pathogenic
- Hereditary spastic paraplegia 3A; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.676
- AlphaMissense 1.00
- MetaLR 0.57
- MetaSVM 0.21
- PolyPhen-2 0.98
- SIFT 0.03
- EVE 0.87
- ClinVar: Pathogenic (Hereditary spastic paraplegia 3A; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)
- Cited in: Spastic Paraplegia 3A. (PMID 20862796)