R20L (p.Arg20Leu) variant of SPG7 (Q9UQ90)
R20L (p.Arg20Leu) in SPG7 (Q9UQ90) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
R20L (p.Arg20Leu) variant details
- p.Arg20Leu
- gnomAD 16-89508476-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- CADD 8.99
- PolyPhen-2 0.00
- SIFT 0.53
- Population evidence available
- Structural context available
- Literature evidence available