R20R (p.Arg20Arg) variant of SPG7 (Q9UQ90)
R20R (p.Arg20Arg) in SPG7 (Q9UQ90) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
R20R (p.Arg20Arg) variant details
- p.Arg20Arg
- rs1187276565
- gnomAD 16-89508477-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.136
- CADD 7.76
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available