L11I (p.Leu11Ile) variant of SPG7 (Q9UQ90)
L11I (p.Leu11Ile) in SPG7 (Q9UQ90) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
L11I (p.Leu11Ile) variant details
- p.Leu11Ile
- gnomAD 16-89508448-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.644
- CADD 16.00
- PolyPhen-2 0.01
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available