W23L (p.Trp23Leu) variant of SPG7 (Q9UQ90)
W23L (p.Trp23Leu) in SPG7 (Q9UQ90) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
W23L (p.Trp23Leu) variant details
- p.Trp23Leu
- gnomAD 16-89508485-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- CADD 21.50
- PolyPhen-2 0.01
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available