R23R (p.Arg23Arg) variant of SPAST (Spastin)
R23R (p.Arg23Arg) in SPAST (Spastin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
R23R (p.Arg23Arg) variant details
- p.Arg23Arg
- gnomAD 2-32063900-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.639
- CADD 15.20
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available