A28S (p.Ala28Ser) variant of SPG7 (Q9UQ90)
A28S (p.Ala28Ser) in SPG7 (Q9UQ90) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
A28S (p.Ala28Ser) variant details
- p.Ala28Ser
- ExAC rs757013711
- gnomAD rs757013711
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- CADD 2.95
- PolyPhen-2 0.00
- SIFT 0.33
- Population evidence available
- Structural context available