W29C (p.Trp29Cys) variant of SPG7 (Q9UQ90)
W29C (p.Trp29Cys) in SPG7 (Q9UQ90) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
W29C (p.Trp29Cys) variant details
- p.Trp29Cys
- gnomAD 16-89508504-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- CADD 22.40
- PolyPhen-2 0.17
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available