V3L (p.Val3Leu) variant of SPG7 (Q9UQ90)
V3L (p.Val3Leu) in SPG7 (Q9UQ90) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
V3L (p.Val3Leu) variant details
- p.Val3Leu
- gnomAD 16-89508424-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- CADD 20.00
- PolyPhen-2 0.00
- SIFT 0.08
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Literature evidence available