R27* (p.Arg27Ter) variant of SDHB (P21912)
R27* (p.Arg27Ter) in SDHB (P21912) 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 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
R27* (p.Arg27Ter) variant details
- p.Arg27Ter
- rs74315369
- ClinGen CA016187
- ClinVar RCV000013623
- ClinVar RCV000129929
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.616
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: Germ-line mutations in nonsyndromic pheochromocytoma. (PMID 12000816)
- Cited in: Whole exome sequencing in patients with white matter abnormalities. (PMID 27159321)