L4A (p.Leu4Ala) variant of SPG7 (Q9UQ90)
L4A (p.Leu4Ala) in SPG7 (Q9UQ90) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
L4A (p.Leu4Ala) variant details
- p.Leu4Ala
- gnomAD 16-89508425-TGC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.259
- CADD 13.40
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Literature evidence available