P25L (p.Pro25Leu) variant of SPG7 (Q9UQ90)
P25L (p.Pro25Leu) in SPG7 (Q9UQ90) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
P25L (p.Pro25Leu) variant details
- p.Pro25Leu
- gnomAD 16-89508491-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0977
- CADD 3.76
- PolyPhen-2 0.00
- SIFT 0.68
- Population evidence available
- Structural context available
- Literature evidence available