G18G (p.Gly18Gly) variant of SPG7 (Q9UQ90)
G18G (p.Gly18Gly) in SPG7 (Q9UQ90) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
G18G (p.Gly18Gly) variant details
- p.Gly18Gly
- gnomAD 16-89508471-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.124
- CADD 6.18
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Literature evidence available