G12V (p.Gly12Val) variant of SPAST (Spastin)
G12V (p.Gly12Val) in SPAST (Spastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
G12V (p.Gly12Val) variant details
- p.Gly12Val
- gnomAD 2-32063866-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- REVEL 0.43
- CADD 24.10
- PolyPhen-2 0.28
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available