W29L (p.Trp29Leu) variant of SPG7 (Q9UQ90)
W29L (p.Trp29Leu) in SPG7 (Q9UQ90) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
W29L (p.Trp29Leu) variant details
- p.Trp29Leu
- gnomAD 16-89508503-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- CADD 17.10
- PolyPhen-2 0.01
- SIFT 0.75
- Population evidence available
- Structural context available
- Literature evidence available