A16A (p.Ala16Ala) variant of SPAST (Spastin)
A16A (p.Ala16Ala) in SPAST (Spastin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
A16A (p.Ala16Ala) variant details
- p.Ala16Ala
- gnomAD 2-32063879-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.356
- CADD 14.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Literature evidence available