R9W (p.Arg9Trp) variant of SPG7 (Q9UQ90)
R9W (p.Arg9Trp) in SPG7 (Q9UQ90) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
R9W (p.Arg9Trp) variant details
- p.Arg9Trp
- gnomAD 16-89507708-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- CADD 7.17
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Literature evidence available