R415Q (p.Arg415Gln) variant of ATL1 (Atlastin-1)
R415Q (p.Arg415Gln) in ATL1 (Atlastin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not provided; Hereditary spastic paraplegia 3A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
R415Q (p.Arg415Gln) variant details
- p.Arg415Gln
- rs397514712
- ClinGen CA264213
- cosmic curated COSV10441
- ClinVar RCV000050231
- Conflicting interpretations
- Inborn genetic diseases; not provided; Hereditary spastic paraplegia 3A
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- REVEL 0.43
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.66
- ClinVar: Conflicting classifications of pathogenicity (Hereditary spastic paraplegia 3A; not provided)
- EBI: Pathogenic (in SPG3)
- UniProt: Pathogenic (in SPG3)
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Cited in: Do not trust the pedigree: reduced and sex-dependent penetrance at a novel mutation hotspot in ATL1 blurs autosomal… (PMID 23483706)
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)