A35T (p.Ala35Thr) variant of SPAST (Spastin)
A35T (p.Ala35Thr) in SPAST (Spastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
A35T (p.Ala35Thr) variant details
- p.Ala35Thr
- gnomAD 2-32063934-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.21
- CADD 21.90
- PolyPhen-2 0.02
- SIFT 0.61
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Literature evidence available