S8* (p.Ser8Ter) variant of SDHAF2 (Q9NX18)
S8* (p.Ser8Ter) in SDHAF2 (Q9NX18) 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 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
S8* (p.Ser8Ter) variant details
- p.Ser8Ter
- rs1254052531
- ClinGen CA380680185
- ClinVar RCV001015411
- ClinVar RCV002549418
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.444
- CADD 35.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 1.2e-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)