W23G (p.Trp23Gly) variant of SPG7 (Q9UQ90)
W23G (p.Trp23Gly) in SPG7 (Q9UQ90) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
W23G (p.Trp23Gly) variant details
- p.Trp23Gly
- TOPMed rs1419170613
- gnomAD rs1419170613
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- CADD 19.10
- PolyPhen-2 0.02
- SIFT 0.09
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available