L6L (p.Leu6Leu) variant of SPG7 (Q9UQ90)
L6L (p.Leu6Leu) in SPG7 (Q9UQ90) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
L6L (p.Leu6Leu) variant details
- p.Leu6Leu
- rs1269380835
- gnomAD 16-89508433-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.137
- CADD 7.94
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Literature evidence available