G24S (p.Gly24Ser) variant of SPG7 (Q9UQ90)
G24S (p.Gly24Ser) in SPG7 (Q9UQ90) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
G24S (p.Gly24Ser) variant details
- p.Gly24Ser
- gnomAD 16-89508487-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.547
- CADD 16.00
- PolyPhen-2 0.00
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available