V28M (p.Val28Met) variant of SDHAF2 (Q9NX18)
V28M (p.Val28Met) 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 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
V28M (p.Val28Met) variant details
- p.Val28Met
- rs1303104521
- ClinGen CA380682945
- ClinVar RCV001898054
- ClinVar RCV004656710
- Uncertain significance
- Hereditary pheochromocytoma and paraganglioma; Hereditary cancer-predisposing sy
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- REVEL 0.19
- MetaLR 0.22
- MetaSVM -0.98
- CADD 6.65
- PolyPhen-2 0.00
- SIFT 0.34
- ClinVar: Uncertain significance (Hereditary pheochromocytoma and paraganglioma; Hereditary cancer)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- 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)