S17S (p.Ser17Ser) variant of SPAST (Spastin)
S17S (p.Ser17Ser) in SPAST (Spastin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
S17S (p.Ser17Ser) variant details
- p.Ser17Ser
- gnomAD 2-32063882-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.515
- CADD 14.80
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available