A35A (p.Ala35Ala) variant of SPAST (Spastin)
A35A (p.Ala35Ala) in SPAST (Spastin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
A35A (p.Ala35Ala) variant details
- p.Ala35Ala
- gnomAD 2-32063936-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.431
- CADD 14.10
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available