A28A (p.Ala28Ala) variant of SPG7 (Q9UQ90)
A28A (p.Ala28Ala) in SPG7 (Q9UQ90) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
A28A (p.Ala28Ala) variant details
- p.Ala28Ala
- gnomAD 16-89508501-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.312
- CADD 8.71
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Literature evidence available