G24V (p.Gly24Val) variant of SPG7 (Q9UQ90)
G24V (p.Gly24Val) in SPG7 (Q9UQ90) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
G24V (p.Gly24Val) variant details
- p.Gly24Val
- ExAC rs774999325
- TOPMed rs774999325
- gnomAD rs774999325
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- CADD 21.80
- PolyPhen-2 0.03
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available