S8* (p.Ser8Ter) variant of SDHA (P31040)
S8* (p.Ser8Ter) in SDHA (P31040) 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 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
S8* (p.Ser8Ter) variant details
- p.Ser8Ter
- rs878854631
- ClinGen CA359007295
- ClinVar RCV001993135
- ClinVar RCV003303493
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.479
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 1.5e-05)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: Hereditary Paraganglioma-Pheochromocytoma Syndromes. (PMID 20301715)