P25Q (p.Pro25Gln) variant of SPAST (Spastin)
P25Q (p.Pro25Gln) in SPAST (Spastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
P25Q (p.Pro25Gln) variant details
- p.Pro25Gln
- gnomAD 2-32063905-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.35
- CADD 22.60
- PolyPhen-2 0.20
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available