Y35S (p.Tyr35Ser) variant of SDHAF2 (Q9NX18)
Y35S (p.Tyr35Ser) 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 0.51 / 1. The record also includes published literature and structural context.
Y35S (p.Tyr35Ser) variant details
- p.Tyr35Ser
- rs1330914865
- ClinGen CA380683070
- ClinVar RCV002012550
- ClinVar RCV002389004
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Hereditary pheochromocytoma and paragan
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- AlphaMissense 0.19
- MetaLR 0.63
- MetaSVM 0.16
- PolyPhen-2 1.00
- SIFT 0.05
- EVE 0.16
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Hereditary pheochromocy)
- 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)
- Cited in: Hereditary Paraganglioma-Pheochromocytoma Syndromes. (PMID 20301715)