W21R (p.Trp21Arg) variant of ATL1 (Atlastin-1)
W21R (p.Trp21Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes published literature and structural context.
W21R (p.Trp21Arg) variant details
- p.Trp21Arg
- rs1566722905
- ClinGen CA389665192
- ClinVar RCV001211767
- Ensembl rs1566722905
- Uncertain significance
- Hereditary spastic paraplegia 3A
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- AlphaMissense 0.76
- MetaLR 0.44
- MetaSVM -0.33
- PolyPhen-2 0.99
- SIFT 0.05
- MutPred 0.26
- ClinVar: Uncertain significance (Hereditary spastic paraplegia 3A)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)
- Cited in: Spastic Paraplegia 3A. (PMID 20862796)