G5V (p.Gly5Val) variant of SPAST (Spastin)
G5V (p.Gly5Val) in SPAST (Spastin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
G5V (p.Gly5Val) variant details
- p.Gly5Val
- gnomAD 2-32063842-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.633
- CADD 24.90
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available