R38* (p.Arg38Ter) variant of SDHD (O14521)
R38* (p.Arg38Ter) 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.
R38* (p.Arg38Ter) variant details
- p.Arg38Ter
- rs80338843
- ClinGen CA016789
- ClinVar RCV000007296
- ClinVar RCV000020518
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.579
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. (PMID 10657297)
- Cited in: Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma. (PMID 11156372)