A10D (p.Ala10Asp) variant of SPG7 (Q9UQ90)
A10D (p.Ala10Asp) in SPG7 (Q9UQ90) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
A10D (p.Ala10Asp) variant details
- p.Ala10Asp
- gnomAD 16-89508446-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.161
- CADD 5.51
- PolyPhen-2 0.02
- SIFT 0.46
- Population evidence available
- Structural context available
- Literature evidence available