R9G (p.Arg9Gly) variant of SPG7 (Q9UQ90)
R9G (p.Arg9Gly) in SPG7 (Q9UQ90) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
R9G (p.Arg9Gly) variant details
- p.Arg9Gly
- rs1186328599
- gnomAD 16-89507706-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.129
- CADD 6.78
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Literature evidence available