S17G (p.Ser17Gly) variant of SPAST (Spastin)
S17G (p.Ser17Gly) in SPAST (Spastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
S17G (p.Ser17Gly) variant details
- p.Ser17Gly
- gnomAD 2-32063880-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.29
- CADD 19.00
- PolyPhen-2 0.00
- SIFT 0.32
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Literature evidence available