M91L (p.Met91Leu) variant of ATL1 (Atlastin-1)
M91L (p.Met91Leu) 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 population frequency data, published literature, and structural context.
M91L (p.Met91Leu) variant details
- p.Met91Leu
- rs985606716
- ClinGen CA389666061
- ClinVar RCV002842683
- Uncertain significance
- Hereditary spastic paraplegia 3A
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.22
- AlphaMissense 0.32
- MetaLR 0.37
- MetaSVM -0.47
- CADD 21.30
- PolyPhen-2 0.23
- ClinVar: Uncertain significance (Hereditary spastic paraplegia 3A)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)
- Cited in: Spastic Paraplegia 3A. (PMID 20862796)