P4T (p.Pro4Thr) variant of SPAST (Spastin)
P4T (p.Pro4Thr) in SPAST (Spastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
P4T (p.Pro4Thr) variant details
- p.Pro4Thr
- gnomAD 2-32063841-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.557
- REVEL 0.45
- CADD 23.50
- PolyPhen-2 0.14
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available