S8W (p.Ser8Trp) variant of SDHAF2 (Q9NX18)
S8W (p.Ser8Trp) in SDHAF2 (Q9NX18) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Hereditary cancer-predisposing syndrome; Hereditary pheochromocyto. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
S8W (p.Ser8Trp) variant details
- p.Ser8Trp
- rs1254052531
- ClinGen CA380680189
- ClinVar RCV002430667
- ClinVar RCV004765517
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome; Hereditary pheochromocyto
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.19
- MetaLR 0.22
- MetaSVM -0.88
- CADD 15.90
- PolyPhen-2 0.12
- SIFT 0.17
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome; Hereditar)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-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)