G8W (p.Gly8Trp) variant of SPAST (Spastin)
G8W (p.Gly8Trp) in SPAST (Spastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
G8W (p.Gly8Trp) variant details
- p.Gly8Trp
- gnomAD 2-32063853-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.31
- CADD 23.50
- PolyPhen-2 0.33
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available