G24A (p.Gly24Ala) variant of SPG7 (Q9UQ90)
G24A (p.Gly24Ala) in SPG7 (Q9UQ90) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
G24A (p.Gly24Ala) variant details
- p.Gly24Ala
- ExAC rs774999325
- TOPMed rs774999325
- gnomAD rs774999325
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- CADD 17.20
- PolyPhen-2 0.00
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available