P15T (p.Pro15Thr) variant of SPG7 (Q9UQ90)
P15T (p.Pro15Thr) in SPG7 (Q9UQ90) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
P15T (p.Pro15Thr) variant details
- p.Pro15Thr
- gnomAD 16-89508460-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- CADD 11.60
- PolyPhen-2 0.02
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available