R7* (p.Arg7Ter) variant of SPAST (Spastin)
R7* (p.Arg7Ter) in SPAST (Spastin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
R7* (p.Arg7Ter) variant details
- p.Arg7Ter
- gnomAD 2-32063850-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.65
- CADD 36.00
- Population evidence available
- Structural context available
- Literature evidence available