A39T (p.Ala39Thr) variant of SPAST (Spastin)
A39T (p.Ala39Thr) in SPAST (Spastin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Hereditary spastic paraplegia 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
A39T (p.Ala39Thr) variant details
- p.Ala39Thr
- TOPMed rs1676394003
- gnomAD rs1676394003
- Uncertain significance
- Hereditary spastic paraplegia 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.24
- CADD 20.70
- PolyPhen-2 0.12
- SIFT 0.42
- ClinVar: Uncertain significance (Hereditary spastic paraplegia 4)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available