P21Q (p.Pro21Gln) variant of SPG7 (Q9UQ90)
P21Q (p.Pro21Gln) in SPG7 (Q9UQ90) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
P21Q (p.Pro21Gln) variant details
- p.Pro21Gln
- gnomAD 16-89508479-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.146
- CADD 11.20
- PolyPhen-2 0.01
- SIFT 0.37
- Population evidence available
- Structural context available
- Literature evidence available