R12L (p.Arg12Leu) variant of SPG7 (Q9UQ90)
R12L (p.Arg12Leu) in SPG7 (Q9UQ90) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
R12L (p.Arg12Leu) variant details
- p.Arg12Leu
- gnomAD 16-89508452-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- CADD 14.50
- PolyPhen-2 0.02
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available