P25Q (p.Pro25Gln) variant of SPG7 (Q9UQ90)
P25Q (p.Pro25Gln) in SPG7 (Q9UQ90) is a protein-truncating 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.
P25Q (p.Pro25Gln) variant details
- p.Pro25Gln
- gnomAD 16-89508488-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.347
- CADD 23.20
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Literature evidence available