Y90H (p.Tyr90His) variant of ATL1 (Atlastin-1)
Y90H (p.Tyr90His) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
Y90H (p.Tyr90His) variant details
- p.Tyr90His
- rs767543400
- ClinGen CA7180188
- ClinVar RCV002659245
- ClinVar RCV003151902
- Uncertain significance
- Hereditary spastic paraplegia 3A; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.739
- REVEL 0.82
- CADD 28.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary spastic paraplegia 3A; not provided)
- 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)