D38E (p.Asp38Glu) variant of SDHAF2 (Q9NX18)
D38E (p.Asp38Glu) in SDHAF2 (Q9NX18) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary pheochromocytoma and paraganglioma; Hereditary cancer-predisposing sy. The record also includes structural context.
D38E (p.Asp38Glu) variant details
- p.Asp38Glu
- Ensembl rs2134892239
- Conflicting interpretations
- Hereditary pheochromocytoma and paraganglioma; Hereditary cancer-predisposing sy
- Missense
- ClinVar: Conflicting classifications of pathogenicity (Hereditary pheochromocytoma and paraganglioma; Hereditary cancer)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available