S11W (p.Ser11Trp) variant of SDHAF2 (Q9NX18)
S11W (p.Ser11Trp) in SDHAF2 (Q9NX18) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary pheochromocytoma and paraganglioma; Pheochromocytoma/paraganglioma sy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
S11W (p.Ser11Trp) variant details
- p.Ser11Trp
- rs148425779
- ClinGen CA380680213
- ClinVar RCV001896081
- ClinVar RCV002458741
- Uncertain significance
- Hereditary pheochromocytoma and paraganglioma; Pheochromocytoma/paraganglioma sy
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.24
- MetaLR 0.24
- MetaSVM -0.77
- CADD 22.50
- PolyPhen-2 0.19
- SIFT 0.20
- ClinVar: Uncertain significance (Hereditary pheochromocytoma and paraganglioma; Pheochromocytoma/)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 2.5e-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)