W29R (p.Trp29Arg) variant of SPG7 (Q9UQ90)
W29R (p.Trp29Arg) in SPG7 (Q9UQ90) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
W29R (p.Trp29Arg) variant details
- p.Trp29Arg
- gnomAD 16-89508502-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- CADD 9.08
- PolyPhen-2 0.00
- SIFT 0.54
- Population evidence available
- Structural context available
- Literature evidence available