D46E (p.Asp46Glu) variant of SDHAF2 (Q9NX18)
D46E (p.Asp46Glu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
D46E (p.Asp46Glu) variant details
- p.Asp46Glu
- rs969049910
- ClinGen CA380683273
- ClinVar RCV000639354
- ClinVar RCV003303021
- Uncertain significance
- Hereditary pheochromocytoma and paraganglioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.36
- MetaLR 0.44
- MetaSVM -0.34
- CADD 18.50
- PolyPhen-2 0.61
- SIFT 0.08
- ClinVar: Uncertain significance (Hereditary pheochromocytoma and paraganglioma)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- 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)