p.Pro19 Pro37del variant of SPG7 (Q9UQ90)
p.Pro19 Pro37del in SPG7 (Q9UQ90) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
p.Pro19 Pro37del variant details
- gnomAD 16-89508471-TCCTC
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.193
- CADD 15.80
- Population evidence available
- Structural context available
- Literature evidence available