Y35H (p.Tyr35His) variant of SDHAF2 (Q9NX18)
Y35H (p.Tyr35His) 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; Hereditary cancer-predisposing sy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
Y35H (p.Tyr35His) variant details
- p.Tyr35His
- rs1590764776
- ClinGen CA380683065
- ClinVar RCV001042027
- ClinVar RCV002391124
- Uncertain significance
- Hereditary pheochromocytoma and paraganglioma; Hereditary cancer-predisposing sy
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- REVEL 0.48
- MetaLR 0.63
- MetaSVM 0.17
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.17
- ClinVar: Uncertain significance (Hereditary pheochromocytoma and paraganglioma; Hereditary cancer)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- 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)