L22L (p.Leu22Leu) variant of SPG7 (Q9UQ90)
L22L (p.Leu22Leu) 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.
L22L (p.Leu22Leu) variant details
- p.Leu22Leu
- rs1167383291
- gnomAD 16-89508483-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0971
- CADD 2.33
- Population evidence available
- Structural context available
- Literature evidence available