C28F (p.Cys28Phe) variant of SPAST (Spastin)
C28F (p.Cys28Phe) in SPAST (Spastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
C28F (p.Cys28Phe) variant details
- p.Cys28Phe
- gnomAD 2-32063914-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.17
- CADD 21.70
- PolyPhen-2 0.01
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available