R12R (p.Arg12Arg) variant of SPG7 (Q9UQ90)
R12R (p.Arg12Arg) in SPG7 (Q9UQ90) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
R12R (p.Arg12Arg) variant details
- p.Arg12Arg
- rs1230229317
- gnomAD 16-89508453-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.234
- CADD 3.30
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available