P31S (p.Pro31Ser) variant of SPAST (Spastin)
P31S (p.Pro31Ser) in SPAST (Spastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
P31S (p.Pro31Ser) variant details
- p.Pro31Ser
- gnomAD 2-32063922-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.28
- CADD 8.24
- PolyPhen-2 0.00
- SIFT 0.82
- Population evidence available
- Structural context available
- Literature evidence available