R9R (p.Arg9Arg) variant of SPG7 (Q9UQ90)
R9R (p.Arg9Arg) in SPG7 (Q9UQ90) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
R9R (p.Arg9Arg) variant details
- p.Arg9Arg
- rs1235386861
- gnomAD 16-89507708-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.445
- CADD 6.56
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Literature evidence available