R239C (p.Arg239Cys) variant of ATL1 (Atlastin-1)
R239C (p.Arg239Cys) 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 not provided; Neuropathy, hereditary sensory, type 1D; Hereditary spastic parapl. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
R239C (p.Arg239Cys) variant details
- p.Arg239Cys
- rs119476046
- ClinGen CA340228
- NCI-TCGA Cosmic COSV6329
- cosmic curated COSV63296
- Pathogenic/Likely pathogenic
- not provided; Neuropathy, hereditary sensory, type 1D; Hereditary spastic parapl
- Missense
- Variant Prioritization Score for Impact Estimate 0.565
- REVEL 0.50
- CADD 24.70
- PolyPhen-2 0.29
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Neuropathy, hereditary sensory, type 1D; Hereditar)
- EBI: Pathogenic (in SPG3)
- UniProt: Pathogenic (in SPG3)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia. (PMID 11685207)
- Cited in: Early onset autosomal dominant spastic paraplegia caused by novel mutations in SPG3A. (PMID 15517445)