L8I (p.Leu8Ile) variant of SPG7 (Q9UQ90)
L8I (p.Leu8Ile) in SPG7 (Q9UQ90) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
L8I (p.Leu8Ile) variant details
- p.Leu8Ile
- gnomAD 16-89508439-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- CADD 9.54
- PolyPhen-2 0.01
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available