P31H (p.Pro31His) variant of SPAST (Spastin)
P31H (p.Pro31His) in SPAST (Spastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
P31H (p.Pro31His) variant details
- p.Pro31His
- gnomAD 2-32063923-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.25
- CADD 21.70
- PolyPhen-2 0.09
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available