G26S (p.Gly26Ser) variant of SPG7 (Q9UQ90)
G26S (p.Gly26Ser) in SPG7 (Q9UQ90) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
G26S (p.Gly26Ser) variant details
- p.Gly26Ser
- gnomAD 16-89508493-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- CADD 11.10
- PolyPhen-2 0.01
- SIFT 0.43
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available