L8L (p.Leu8Leu) variant of SPG7 (Q9UQ90)
L8L (p.Leu8Leu) 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.
L8L (p.Leu8Leu) variant details
- p.Leu8Leu
- gnomAD 16-89508441-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0984
- CADD 2.51
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available