D46N (p.Asp46Asn) variant of SDHAF2 (Q9NX18)
D46N (p.Asp46Asn) 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 0.53 / 1. The record also includes published literature and structural context.
D46N (p.Asp46Asn) variant details
- p.Asp46Asn
- rs1590764803
- ClinGen CA380683257
- ClinVar RCV000809871
- ClinVar RCV003372864
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Hereditary pheochromocytoma and paragan
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- AlphaMissense 0.39
- MetaLR 0.60
- MetaSVM 0.23
- PolyPhen-2 0.99
- SIFT 0.01
- EVE 0.22
- 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)