M91V (p.Met91Val) variant of ATL1 (Atlastin-1)
M91V (p.Met91Val) 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 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
M91V (p.Met91Val) variant details
- p.Met91Val
- rs985606716
- ClinGen CA260772463
- ClinVar RCV003842439
- TOPMed rs985606716
- Uncertain significance
- Hereditary spastic paraplegia 3A
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- AlphaMissense 0.32
- MetaLR 0.37
- MetaSVM -0.47
- PolyPhen-2 0.23
- SIFT 0.01
- MutPred 0.73
- ClinVar: Uncertain significance (Hereditary spastic paraplegia 3A)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)
- Cited in: Spastic Paraplegia 3A. (PMID 20862796)