G24D (p.Gly24Asp) variant of SPG7 (Q9UQ90)
G24D (p.Gly24Asp) 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, published literature, and structural context.
G24D (p.Gly24Asp) variant details
- p.Gly24Asp
- gnomAD 16-89508488-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- CADD 21.90
- PolyPhen-2 0.04
- SIFT 0.02
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Literature evidence available