L12* (p.Leu12Ter) variant of SDHAF2 (Q9NX18)
L12* (p.Leu12Ter) in SDHAF2 (Q9NX18) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes published literature and structural context.
L12* (p.Leu12Ter) variant details
- p.Leu12Ter
- rs2540111054
- ClinGen CA2580084350
- ClinVar RCV002452035
- Uncertain significance
- Stop Gained
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)