P33T (p.Pro33Thr) variant of SPAST (Spastin)
P33T (p.Pro33Thr) in SPAST (Spastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
P33T (p.Pro33Thr) variant details
- p.Pro33Thr
- gnomAD 2-32063928-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- REVEL 0.26
- CADD 19.90
- PolyPhen-2 0.05
- SIFT 0.24
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Literature evidence available