R415W (p.Arg415Trp) variant of ATL1 (Atlastin-1)
R415W (p.Arg415Trp) 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 3A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
R415W (p.Arg415Trp) variant details
- p.Arg415Trp
- rs119476050
- ClinGen CA204596
- ClinVar RCV000004600
- ClinVar RCV000190652
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; not provided; Hereditary spastic paraplegia 3A
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- REVEL 0.88
- CADD 25.80
- PolyPhen-2 0.79
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; not provided; Hereditary spastic parapl)
- EBI: Pathogenic (in SPG3)
- UniProt: Pathogenic (in SPG3)
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Cited in: Incomplete penetrance in an SPG3A-linked family with a new mutation in the atlastin gene. (PMID 15184642)
- Cited in: Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia. (PMID 20932283)