L5C (p.Leu5Cys) variant of SPG7 (Q9UQ90)
L5C (p.Leu5Cys) in SPG7 (Q9UQ90) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
L5C (p.Leu5Cys) variant details
- p.Leu5Cys
- gnomAD 16-89508428-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.207
- CADD 17.80
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Literature evidence available