R38R (p.Arg38Arg) variant of SDHD (O14521)
R38R (p.Arg38Arg) in SDHD (O14521) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
R38R (p.Arg38Arg) variant details
- p.Arg38Arg
- rs80338843
- gnomAD 11-112087916-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.388
- CADD 10.30
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Immunohistochemistry and Mutation Analysis of SDHx Genes in Carotid Paragangliomas. (PMID 32971818)
- Cited in: Exome analysis of carotid body tumor. (PMID 29504908)