P19H (p.Pro19His) variant of SPG7 (Q9UQ90)
P19H (p.Pro19His) in SPG7 (Q9UQ90) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
P19H (p.Pro19His) variant details
- p.Pro19His
- gnomAD 16-89508473-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.119
- CADD 8.56
- PolyPhen-2 0.12
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available