S13Y (p.Ser13Tyr) variant of SPAST (Spastin)
S13Y (p.Ser13Tyr) in SPAST (Spastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
S13Y (p.Ser13Tyr) variant details
- p.Ser13Tyr
- gnomAD 2-32063869-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.28
- CADD 20.90
- PolyPhen-2 0.05
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available