R9L (p.Arg9Leu) variant of SPG7 (Q9UQ90)
R9L (p.Arg9Leu) in SPG7 (Q9UQ90) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
R9L (p.Arg9Leu) variant details
- p.Arg9Leu
- gnomAD 16-89508443-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- CADD 16.50
- PolyPhen-2 0.00
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available