V40F (p.Val40Phe) variant of ATL1 (Atlastin-1)
V40F (p.Val40Phe) in ATL1 (Atlastin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hereditary spastic paraplegia 3A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes published literature and structural context.
V40F (p.Val40Phe) variant details
- p.Val40Phe
- rs2140201780
- ClinGen CA389665438
- ClinVar RCV001391389
- Ensembl rs2140201780
- Pathogenic
- Hereditary spastic paraplegia 3A
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- AlphaMissense 0.70
- MetaLR 0.14
- MetaSVM -0.97
- PolyPhen-2 0.03
- SIFT 0.12
- MutPred 0.28
- ClinVar: 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)