G16D (p.Gly16Asp) variant of SPG7 (Q9UQ90)
G16D (p.Gly16Asp) in SPG7 (Q9UQ90) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
G16D (p.Gly16Asp) variant details
- p.Gly16Asp
- gnomAD 16-89508464-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- CADD 13.90
- PolyPhen-2 0.00
- SIFT 0.10
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Literature evidence available