E37K (p.Glu37Lys) variant of SDHC (Q99643)
E37K (p.Glu37Lys) in SDHC (Q99643) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Pheochromocytoma/paraganglioma syndrome 3; Gastrointestinal stromal tumor. The record also includes variant effect predictions and structural context.
E37K (p.Glu37Lys) variant details
- p.Glu37Lys
- TOPMed rs1671147063
- Uncertain significance
- Pheochromocytoma/paraganglioma syndrome 3; Gastrointestinal stromal tumor
- Missense
- MetaLR 0.93
- MetaSVM 1.01
- SIFT 0.06
- ClinVar: Uncertain significance (Pheochromocytoma/paraganglioma syndrome 3; Gastrointestinal stro)
- UniProt: Uncertain significance
- Structural context available