R7R (p.Arg7Arg) variant of SPAST (Spastin)
R7R (p.Arg7Arg) in SPAST (Spastin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
R7R (p.Arg7Arg) variant details
- p.Arg7Arg
- rs779449573
- gnomAD 2-32063850-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.492
- CADD 15.10
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available