A32R (p.Ala32Arg) variant of SPAST (Spastin)
A32R (p.Ala32Arg) in SPAST (Spastin) is a protein-truncating 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.
A32R (p.Ala32Arg) variant details
- p.Ala32Arg
- rs1676391139
- gnomAD 2-32063919-G-GC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.512
- CADD 26.50
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available