L7L (p.Leu7Leu) variant of SPG7 (Q9UQ90)
L7L (p.Leu7Leu) in SPG7 (Q9UQ90) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
L7L (p.Leu7Leu) variant details
- p.Leu7Leu
- rs1188029212
- gnomAD 16-89508436-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.351
- CADD 4.98
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available