L22F (p.Leu22Phe) variant of SDHAF2 (Q9NX18)
L22F (p.Leu22Phe) 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 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
L22F (p.Leu22Phe) variant details
- p.Leu22Phe
- rs766468929
- ExAC rs766468929
- gnomAD rs766468929
- ClinGen CA059536
- Uncertain significance
- Hereditary pheochromocytoma and paraganglioma; Hereditary cancer-predisposing sy
- Missense
- Variant Prioritization Score for Impact Estimate 0.116
- REVEL 0.08
- MetaLR 0.26
- MetaSVM -0.88
- CADD 2.53
- PolyPhen-2 0.00
- SIFT 0.34
- ClinVar: Uncertain significance (Hereditary pheochromocytoma and paraganglioma; Hereditary cancer)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- 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)