K45E (p.Lys45Glu) variant of SDHAF2 (Q9NX18)
K45E (p.Lys45Glu) in SDHAF2 (Q9NX18) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; not provided; Hereditary pheochromocyto. 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.
K45E (p.Lys45Glu) variant details
- p.Lys45Glu
- rs368945911
- ClinGen CA057782
- ClinVar RCV000639338
- ClinVar RCV002386043
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided; Hereditary pheochromocyto
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.27
- MetaLR 0.32
- MetaSVM -0.70
- CADD 22.90
- PolyPhen-2 0.05
- SIFT 0.34
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided; Hereditar)
- 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)