R13L (p.Arg13Leu) variant of SPG7 (Q9UQ90)
R13L (p.Arg13Leu) in SPG7 (Q9UQ90) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
R13L (p.Arg13Leu) variant details
- p.Arg13Leu
- gnomAD 16-89508455-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0691
- CADD 2.75
- PolyPhen-2 0.00
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available