T156P (p.Thr156Pro) variant of ATL1 (Atlastin-1)
T156P (p.Thr156Pro) in ATL1 (Atlastin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hereditary spastic paraplegia 3A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes published literature and structural context.
T156P (p.Thr156Pro) variant details
- p.Thr156Pro
- rs2140205433
- ClinGen CA389667405
- ClinVar RCV002248974
- Ensembl rs2140205433
- Pathogenic/Likely pathogenic
- Hereditary spastic paraplegia 3A
- Missense
- Variant Prioritization Score for Impact Estimate 0.669
- AlphaMissense 0.95
- MetaLR 0.57
- MetaSVM 0.28
- PolyPhen-2 0.91
- SIFT 0.00
- EVE 0.90
- ClinVar: Pathogenic/Likely pathogenic (Hereditary spastic paraplegia 3A)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)
- Cited in: Spastic Paraplegia 3A. (PMID 20862796)