M408T (p.Met408Thr) variant of ATL1 (Atlastin-1)
M408T (p.Met408Thr) in ATL1 (Atlastin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Hereditary spastic paraplegia 3A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes published literature and structural context.
M408T (p.Met408Thr) variant details
- p.Met408Thr
- rs1595625113
- ClinGen CA389675802
- ClinVar RCV000989219
- ClinVar RCV001585898
- Pathogenic
- not provided; Hereditary spastic paraplegia 3A
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- AlphaMissense 1.00
- MetaLR 0.39
- MetaSVM -0.19
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.81
- ClinVar: Pathogenic (not provided; Hereditary spastic paraplegia 3A)
- EBI: Pathogenic (in SPG3)
- UniProt: Pathogenic (in SPG3)
- Structural context available
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)
- Cited in: Spastic Paraplegia 3A. (PMID 20862796)