E49G (p.Glu49Gly) variant of SDHAF2 (Q9NX18)
E49G (p.Glu49Gly) 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 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
E49G (p.Glu49Gly) variant details
- p.Glu49Gly
- rs1295134579
- ClinGen CA380683324
- ClinVar RCV001053733
- ClinVar RCV001772266
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided; Hereditary pheochromocyto
- Missense
- Variant Prioritization Score for Impact Estimate 0.561
- REVEL 0.51
- MetaLR 0.56
- MetaSVM 0.18
- CADD 29.50
- PolyPhen-2 0.62
- SIFT 0.04
- 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 4.8e-05)
- Structural context available
- Cited in: Hereditary Paraganglioma-Pheochromocytoma Syndromes. (PMID 20301715)
- Cited in: The North American Neuroendocrine Tumor Society consensus guideline for the diagnosis and management of neuroendocrine… (PMID 20664475)