P19Q (p.Pro19Gln) variant of SPAST (Spastin)
P19Q (p.Pro19Gln) in SPAST (Spastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
P19Q (p.Pro19Gln) variant details
- p.Pro19Gln
- gnomAD 2-32063887-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.32
- CADD 24.50
- PolyPhen-2 0.08
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available