A16S (p.Ala16Ser) variant of SPAST (Spastin)
A16S (p.Ala16Ser) in SPAST (Spastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
A16S (p.Ala16Ser) variant details
- p.Ala16Ser
- gnomAD 2-32063877-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.35
- CADD 11.00
- PolyPhen-2 0.00
- SIFT 0.41
- Population evidence available
- Structural context available
- Literature evidence available