S8L (p.Ser8Leu) variant of SDHAF2 (Q9NX18)
S8L (p.Ser8Leu) 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; Hereditary pheochromocytoma and paragan. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
S8L (p.Ser8Leu) variant details
- p.Ser8Leu
- rs1254052531
- ClinGen CA380680187
- ClinVar RCV001874902
- ClinVar RCV002449511
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Hereditary pheochromocytoma and paragan
- Missense
- Variant Prioritization Score for Impact Estimate 0.18
- REVEL 0.08
- MetaLR 0.26
- MetaSVM -0.85
- CADD 12.20
- PolyPhen-2 0.00
- SIFT 0.66
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Hereditary pheochromocy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- 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)