V28E (p.Val28Glu) variant of SDHAF2 (Q9NX18)
V28E (p.Val28Glu) in SDHAF2 (Q9NX18) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; Hereditary pheochromocytoma and paragan. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes published literature and structural context.
V28E (p.Val28Glu) variant details
- p.Val28Glu
- rs1590764751
- ClinGen CA380682952
- ClinVar RCV001017709
- ClinVar RCV001873301
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Hereditary pheochromocytoma and paragan
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- AlphaMissense 0.06
- MetaLR 0.18
- MetaSVM -0.99
- PolyPhen-2 0.00
- SIFT 0.07
- EVE 0.07
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Hereditary pheochromocy)
- EBI: Likely benign
- UniProt: Likely benign
- 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)