G5G (p.Gly5Gly) variant of SPAST (Spastin)
G5G (p.Gly5Gly) in SPAST (Spastin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
G5G (p.Gly5Gly) variant details
- p.Gly5Gly
- rs754256093
- gnomAD 2-32063846-T-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.179
- CADD 13.90
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Literature evidence available