p.Pro33 Ala35del variant of SPAST (Spastin)
p.Pro33 Ala35del in SPAST (Spastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
p.Pro33 Ala35del variant details
- rs745951969
- gnomAD 2-32063921-CCCCGC
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.514
- CADD 19.60
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available