A36T (p.Ala36Thr) variant of SPAST (Spastin)
A36T (p.Ala36Thr) in SPAST (Spastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
A36T (p.Ala36Thr) variant details
- p.Ala36Thr
- TOPMed rs1482010474
- gnomAD rs1482010474
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.18
- CADD 21.40
- PolyPhen-2 0.01
- SIFT 0.22
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available