L14F (p.Leu14Phe) variant of SDHAF2 (Q9NX18)
L14F (p.Leu14Phe) in SDHAF2 (Q9NX18) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Hereditary pheochromocytoma and paraganglioma; Hereditary cancer-p. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
L14F (p.Leu14Phe) variant details
- p.Leu14Phe
- rs1273048863
- ClinGen CA380682741
- ClinVar RCV001964778
- ClinVar RCV003382735
- Uncertain significance
- not provided; Hereditary pheochromocytoma and paraganglioma; Hereditary cancer-p
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.32
- MetaLR 0.50
- MetaSVM -0.44
- CADD 20.90
- PolyPhen-2 0.80
- SIFT 0.33
- ClinVar: Uncertain significance (not provided; Hereditary pheochromocytoma and paraganglioma; Her)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- 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)