L8del (p.Leu8del) variant of SPG7 (Q9UQ90)
L8del (p.Leu8del) in SPG7 (Q9UQ90) is a missense 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.
L8del (p.Leu8del) variant details
- rs781285980
- gnomAD 16-89508424-GTGC-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.355
- CADD 12.50
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available