A36P (p.Ala36Pro) variant of SPAST (Spastin)
A36P (p.Ala36Pro) 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 and structural context.
A36P (p.Ala36Pro) variant details
- p.Ala36Pro
- TOPMed rs1482010474
- gnomAD rs1482010474
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.28
- CADD 20.90
- PolyPhen-2 0.00
- SIFT 0.40
- Population evidence available
- Structural context available