A16P (p.Ala16Pro) variant of SPAST (Spastin)
A16P (p.Ala16Pro) in SPAST (Spastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
A16P (p.Ala16Pro) variant details
- p.Ala16Pro
- ExAC rs773348749
- TOPMed rs773348749
- gnomAD rs773348749
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.33
- CADD 14.30
- PolyPhen-2 0.00
- SIFT 0.26
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available