A35P (p.Ala35Pro) variant of SPAST (Spastin)
A35P (p.Ala35Pro) in SPAST (Spastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
A35P (p.Ala35Pro) variant details
- p.Ala35Pro
- 1000Genomes rs560002466
- ExAC rs560002466
- gnomAD rs560002466
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.32
- CADD 22.70
- PolyPhen-2 0.15
- SIFT 0.33
- Population evidence available
- Structural context available