A16D (p.Ala16Asp) variant of SPAST (Spastin)
A16D (p.Ala16Asp) in SPAST (Spastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
A16D (p.Ala16Asp) variant details
- p.Ala16Asp
- gnomAD 2-32063878-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.28
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available