A32A (p.Ala32Ala) variant of SPAST (Spastin)
A32A (p.Ala32Ala) in SPAST (Spastin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
A32A (p.Ala32Ala) variant details
- p.Ala32Ala
- rs200837566
- gnomAD 2-32063927-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.333
- CADD 14.90
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available