R9Q (p.Arg9Gln) variant of SPG7 (Q9UQ90)
R9Q (p.Arg9Gln) in SPG7 (Q9UQ90) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
R9Q (p.Arg9Gln) variant details
- p.Arg9Gln
- rs1473634224
- gnomAD 16-89507709-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.166
- CADD 9.77
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available