G14D (p.Gly14Asp) variant of SPG7 (Q9UQ90)
G14D (p.Gly14Asp) in SPG7 (Q9UQ90) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
G14D (p.Gly14Asp) variant details
- p.Gly14Asp
- TOPMed rs1267090698
- gnomAD rs1267090698
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- CADD 9.53
- PolyPhen-2 0.05
- SIFT 0.07
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available