L5L (p.Leu5Leu) variant of SPG7 (Q9UQ90)
L5L (p.Leu5Leu) in SPG7 (Q9UQ90) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
L5L (p.Leu5Leu) variant details
- p.Leu5Leu
- rs952946941
- gnomAD 16-89508430-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.094
- CADD 1.88
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available