G6D (p.Gly6Asp) variant of SPAST (Spastin)
G6D (p.Gly6Asp) in SPAST (Spastin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
G6D (p.Gly6Asp) variant details
- p.Gly6Asp
- gnomAD 2-32063846-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.287
- CADD 29.10
- Population evidence available
- Structural context available
- Literature evidence available