P21T (p.Pro21Thr) variant of SPG7 (Q9UQ90)
P21T (p.Pro21Thr) in SPG7 (Q9UQ90) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
P21T (p.Pro21Thr) variant details
- p.Pro21Thr
- gnomAD 16-89508478-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- CADD 4.68
- PolyPhen-2 0.00
- SIFT 0.23
- Population evidence available
- Structural context available
- Literature evidence available