I56T (p.Ile56Thr) variant of ATL1 (Atlastin-1)
I56T (p.Ile56Thr) in ATL1 (Atlastin-1) is a missense change. Clinical records from ClinVar 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 0.77 / 1. The record also includes population frequency data and structural context.
I56T (p.Ile56Thr) variant details
- p.Ile56Thr
- ExAC rs778699311
- TOPMed rs778699311
- gnomAD rs778699311
- Uncertain significance
- Hereditary spastic paraplegia 3A
- Missense
- Variant Prioritization Score for Impact Estimate 0.77
- REVEL 0.86
- CADD 26.70
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (Hereditary spastic paraplegia 3A)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available