S45A (p.Ser45Ala) variant of ATL1 (Atlastin-1)
S45A (p.Ser45Ala) 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 0.36 / 1. The record also includes published literature and structural context.
S45A (p.Ser45Ala) variant details
- p.Ser45Ala
- rs2140201804
- ClinGen CA389665515
- ClinVar RCV002043441
- Ensembl rs2140201804
- Uncertain significance
- Hereditary spastic paraplegia 3A
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- AlphaMissense 0.08
- MetaLR 0.33
- MetaSVM -0.61
- PolyPhen-2 0.00
- SIFT 0.04
- EVE 0.19
- 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)