R22* (p.Arg22Ter) variant of SDHD (O14521)
R22* (p.Arg22Ter) in SDHD (O14521) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
R22* (p.Arg22Ter) variant details
- p.Arg22Ter
- rs104894306
- ClinGen CA016739
- ClinVar RCV000007312
- ClinVar RCV000193132
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.578
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Oxygen sensing by the carotid body chemoreceptors. (PMID 10846047)
- Cited in: The R22X mutation of the SDHD gene in hereditary paraganglioma abolishes the enzymatic activity of complex II in the… (PMID 11605159)