R22R (p.Arg22Arg) variant of SDHD (O14521)
R22R (p.Arg22Arg) in SDHD (O14521) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
R22R (p.Arg22Arg) variant details
- p.Arg22Arg
- rs104894306
- gnomAD 11-112087868-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.425
- CADD 14.80
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available
- Cited in: ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007. (PMID 18414213)
- Cited in: The R22X mutation of the SDHD gene in hereditary paraganglioma abolishes the enzymatic activity of complex II in the… (PMID 11605159)