A16T (p.Ala16Thr) variant of SPAST (Spastin)
A16T (p.Ala16Thr) in SPAST (Spastin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
A16T (p.Ala16Thr) variant details
- p.Ala16Thr
- ExAC rs773348749
- TOPMed rs773348749
- gnomAD rs773348749
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.33
- CADD 17.90
- PolyPhen-2 0.00
- SIFT 0.04
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available