R20Q (p.Arg20Gln) variant of SPG7 (Q9UQ90)
R20Q (p.Arg20Gln) in SPG7 (Q9UQ90) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
R20Q (p.Arg20Gln) variant details
- p.Arg20Gln
- gnomAD 16-89508476-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- CADD 9.34
- PolyPhen-2 0.01
- SIFT 0.50
- Population evidence available
- Structural context available
- Literature evidence available