R416C (p.Arg416Cys) variant of ATL1 (Atlastin-1)
R416C (p.Arg416Cys) in ATL1 (Atlastin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; not provided; Hereditary spastic paraplegia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
R416C (p.Arg416Cys) variant details
- p.Arg416Cys
- rs387906941
- ClinGen CA259834
- cosmic curated COSV63296
- ClinVar RCV000023545
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; not provided; Hereditary spastic paraplegia
- Missense
- Variant Prioritization Score for Impact Estimate 0.665
- REVEL 0.61
- CADD 24.20
- PolyPhen-2 0.09
- SIFT 0.04
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; not provided; Hereditary spastic parapl)
- EBI: Pathogenic (in SPG3)
- UniProt: Pathogenic (in SPG3)
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Cited in: Late-onset hereditary spastic paraplegia with thin corpus callosum caused by a new SPG3A mutation. (PMID 21336785)
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)