A39A (p.Ala39Ala) variant of SPAST (Spastin)
A39A (p.Ala39Ala) in SPAST (Spastin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
A39A (p.Ala39Ala) variant details
- p.Ala39Ala
- rs760308500
- gnomAD 2-32063948-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.415
- CADD 11.70
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Literature evidence available