P17T (p.Pro17Thr) variant of SPG7 (Q9UQ90)
P17T (p.Pro17Thr) in SPG7 (Q9UQ90) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
P17T (p.Pro17Thr) variant details
- p.Pro17Thr
- gnomAD 16-89508466-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0952
- CADD 0.70
- PolyPhen-2 0.00
- SIFT 0.40
- Population evidence available
- Structural context available
- Literature evidence available