R55Q (p.Arg55Gln) variant of ATL1 (Atlastin-1)
R55Q (p.Arg55Gln) in ATL1 (Atlastin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Hereditary spastic paraplegia 3A; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
R55Q (p.Arg55Gln) variant details
- p.Arg55Gln
- rs564832738
- ClinGen CA7180177
- cosmic curated COSV63295
- ClinVar RCV000533437
- Uncertain significance
- not provided; Hereditary spastic paraplegia 3A; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.10
- CADD 22.10
- PolyPhen-2 0.01
- SIFT 0.57
- ClinVar: Uncertain significance (not provided; Hereditary spastic paraplegia 3A; Inborn genetic d)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)
- Cited in: Spastic Paraplegia 3A. (PMID 20862796)