A15P (p.Ala15Pro) variant of SDHAF2 (Q9NX18)
A15P (p.Ala15Pro) 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 0.41 / 1. The record also includes published literature and structural context.
A15P (p.Ala15Pro) variant details
- p.Ala15Pro
- rs1002894711
- ClinGen CA380682755
- ClinVar RCV001064541
- ClinVar RCV004030541
- Uncertain significance
- Hereditary pheochromocytoma and paraganglioma; Hereditary cancer-predisposing sy
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- AlphaMissense 0.10
- MetaLR 0.32
- MetaSVM -0.79
- PolyPhen-2 0.61
- SIFT 0.03
- MutPred 0.27
- ClinVar: Uncertain significance (Hereditary pheochromocytoma and paraganglioma; Hereditary cancer)
- 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)