P27L (p.Pro27Leu) variant of SPG7 (Q9UQ90)
P27L (p.Pro27Leu) in SPG7 (Q9UQ90) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
P27L (p.Pro27Leu) variant details
- p.Pro27Leu
- gnomAD 16-89508497-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.136
- CADD 0.84
- PolyPhen-2 0.00
- SIFT 0.67
- Population evidence available
- Structural context available
- Literature evidence available