P19T (p.Pro19Thr) variant of SPAST (Spastin)
P19T (p.Pro19Thr) in SPAST (Spastin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
P19T (p.Pro19Thr) variant details
- p.Pro19Thr
- ExAC rs372349942
- TOPMed rs372349942
- gnomAD rs372349942
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.27
- AlphaMissense 0.08
- MetaLR 0.54
- MetaSVM -0.21
- CADD 22.40
- PolyPhen-2 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available