A32T (p.Ala32Thr) variant of SPAST (Spastin)
A32T (p.Ala32Thr) in SPAST (Spastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
A32T (p.Ala32Thr) variant details
- p.Ala32Thr
- gnomAD rs1676391613
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.19
- CADD 21.50
- PolyPhen-2 0.00
- SIFT 0.40
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available