P19T (p.Pro19Thr) variant of SPG7 (Q9UQ90)
P19T (p.Pro19Thr) in SPG7 (Q9UQ90) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
P19T (p.Pro19Thr) variant details
- p.Pro19Thr
- gnomAD 16-89508472-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- CADD 9.35
- PolyPhen-2 0.00
- SIFT 0.25
- Population evidence available
- Structural context available
- Literature evidence available