P34A (p.Pro34Ala) variant of SPAST (Spastin)
P34A (p.Pro34Ala) in SPAST (Spastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
P34A (p.Pro34Ala) variant details
- p.Pro34Ala
- gnomAD 2-32063931-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.26
- CADD 16.40
- PolyPhen-2 0.01
- SIFT 0.57
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Literature evidence available