S8T (p.Ser8Thr) variant of SDHAF2 (Q9NX18)
S8T (p.Ser8Thr) in SDHAF2 (Q9NX18) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The record also includes published literature and structural context.
S8T (p.Ser8Thr) variant details
- p.Ser8Thr
- rs2540110958
- ClinGen CA380680179
- ClinVar RCV002428471
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- 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)