P4Q (p.Pro4Gln) variant of SPAST (Spastin)
P4Q (p.Pro4Gln) in SPAST (Spastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
P4Q (p.Pro4Gln) variant details
- p.Pro4Gln
- gnomAD 2-32063842-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.566
- REVEL 0.51
- CADD 25.80
- PolyPhen-2 0.69
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available