P40L (p.Pro40Leu) variant of SDHAF2 (Q9NX18)
P40L (p.Pro40Leu) 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 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
P40L (p.Pro40Leu) variant details
- p.Pro40Leu
- rs2540124144
- ClinGen CA380683166
- ClinVar RCV002617850
- ClinVar RCV006292217
- Uncertain significance
- Hereditary pheochromocytoma and paraganglioma; Hereditary cancer-predisposing sy
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.25
- MetaLR 0.41
- MetaSVM -0.35
- CADD 23.40
- PolyPhen-2 0.01
- SIFT 0.10
- ClinVar: Uncertain significance (Hereditary pheochromocytoma and paraganglioma; Hereditary cancer)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-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)