P25T (p.Pro25Thr) variant of SPG7 (Q9UQ90)
P25T (p.Pro25Thr) in SPG7 (Q9UQ90) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
P25T (p.Pro25Thr) variant details
- p.Pro25Thr
- gnomAD 16-89508490-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- CADD 3.05
- PolyPhen-2 0.01
- SIFT 0.53
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Literature evidence available