R13R (p.Arg13Arg) variant of SPG7 (Q9UQ90)
R13R (p.Arg13Arg) in SPG7 (Q9UQ90) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
R13R (p.Arg13Arg) variant details
- p.Arg13Arg
- gnomAD 16-89507726-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0894
- CADD 1.24
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Literature evidence available