Q44* (p.Gln44Ter) variant of SDHAF2 (Q9NX18)
Q44* (p.Gln44Ter) 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 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
Q44* (p.Gln44Ter) variant details
- p.Gln44Ter
- rs2134892271
- ClinGen CA380683220
- ClinVar RCV001581492
- ClinVar RCV001866107
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.67
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 8.8e-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)