G14G (p.Gly14Gly) variant of SPG7 (Q9UQ90)
G14G (p.Gly14Gly) in SPG7 (Q9UQ90) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
G14G (p.Gly14Gly) variant details
- p.Gly14Gly
- rs2057937523
- gnomAD 16-89507695-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.468
- CADD 9.20
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available