p.Pro27 Pro42del variant of SPAST (Spastin)
p.Pro27 Pro42del in SPAST (Spastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
p.Pro27 Pro42del variant details
- rs2148685190
- gnomAD 2-32063900-GCCTCC
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.679
- CADD 20.10
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available