R239L (p.Arg239Leu) variant of ATL1 (Atlastin-1)
R239L (p.Arg239Leu) 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; Neuropathy, hereditary sensory, type 1D; Hereditary spastic parapl. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes published literature and structural context.
R239L (p.Arg239Leu) variant details
- p.Arg239Leu
- rs1241621325
- ClinGen CA389671158
- ClinVar RCV001065616
- TOPMed rs1241621325
- Pathogenic
- not provided; Neuropathy, hereditary sensory, type 1D; Hereditary spastic parapl
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- AlphaMissense 0.91
- MetaLR 0.30
- MetaSVM -0.31
- PolyPhen-2 0.80
- SIFT 0.00
- EVE 0.87
- ClinVar: Pathogenic (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)