L4L (p.Leu4Leu) variant of SPG7 (Q9UQ90)
L4L (p.Leu4Leu) in SPG7 (Q9UQ90) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
L4L (p.Leu4Leu) variant details
- p.Leu4Leu
- rs2057958304
- gnomAD 16-89508427-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.101
- CADD 2.93
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available