A16V (p.Ala16Val) variant of SPAST (Spastin)
A16V (p.Ala16Val) 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 and structural context.
A16V (p.Ala16Val) variant details
- p.Ala16Val
- ExAC rs770931525
- gnomAD rs770931525
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.28
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available