R55W (p.Arg55Trp) variant of ATL1 (Atlastin-1)
R55W (p.Arg55Trp) in ATL1 (Atlastin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary spastic paraplegia 3A; not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
R55W (p.Arg55Trp) variant details
- p.Arg55Trp
- rs149901427
- ClinGen CA7180176
- cosmic curated COSV10061
- ClinVar RCV000702118
- Uncertain significance
- Hereditary spastic paraplegia 3A; not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- REVEL 0.32
- CADD 26.00
- PolyPhen-2 0.78
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary spastic paraplegia 3A; not provided; Inborn genetic d)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)
- Cited in: Spastic Paraplegia 3A. (PMID 20862796)