S11L (p.Ser11Leu) variant of SDHAF2 (Q9NX18)
S11L (p.Ser11Leu) in SDHAF2 (Q9NX18) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Hereditary cancer-predisposing syndrome; not provided; Hereditary pheochromocyto. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
S11L (p.Ser11Leu) variant details
- p.Ser11Leu
- rs148425779
- ClinGen CA058473
- cosmic curated COSV57099
- ClinVar RCV000540123
- Benign/Likely benign
- Hereditary cancer-predisposing syndrome; not provided; Hereditary pheochromocyto
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.15
- MetaLR 0.26
- MetaSVM -0.89
- CADD 18.50
- PolyPhen-2 0.00
- SIFT 0.70
- ClinVar: Benign/Likely benign (Hereditary cancer-predisposing syndrome; not provided; Hereditar)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.9e-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)