S11* (p.Ser11Ter) variant of SDHAF2 (Q9NX18)
S11* (p.Ser11Ter) 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 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
S11* (p.Ser11Ter) variant details
- p.Ser11Ter
- rs148425779
- ClinGen CA222873842
- ClinVar RCV003069774
- ClinVar RCV004071868
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.583
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 2.5e-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)