G26A (p.Gly26Ala) variant of SPG7 (Q9UQ90)
G26A (p.Gly26Ala) in SPG7 (Q9UQ90) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
G26A (p.Gly26Ala) variant details
- p.Gly26Ala
- gnomAD 16-89508494-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.099
- CADD 4.61
- PolyPhen-2 0.00
- SIFT 0.51
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available