A30A (p.Ala30Ala) variant of SPAST (Spastin)
A30A (p.Ala30Ala) in SPAST (Spastin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
A30A (p.Ala30Ala) variant details
- p.Ala30Ala
- gnomAD 2-32063921-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.461
- CADD 13.30
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available