S17I (p.Ser17Ile) variant of SPAST (Spastin)
S17I (p.Ser17Ile) in SPAST (Spastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
S17I (p.Ser17Ile) variant details
- p.Ser17Ile
- gnomAD 2-32063881-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.27
- CADD 24.10
- PolyPhen-2 0.06
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available