A28G (p.Ala28Gly) variant of SPG7 (Q9UQ90)
A28G (p.Ala28Gly) in SPG7 (Q9UQ90) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
A28G (p.Ala28Gly) variant details
- p.Ala28Gly
- rs2057960339
- gnomAD 16-89508489-CCCAG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.663
- CADD 23.60
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Literature evidence available