R18R (p.Arg18Arg) variant of SDHAF2 (Q9NX18)
R18R (p.Arg18Arg) in SDHAF2 (Q9NX18) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
R18R (p.Arg18Arg) variant details
- p.Arg18Arg
- rs1590764725
- gnomAD 11-61437642-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.528
- CADD 5.82
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available