I44M (p.Ile44Met) variant of SDHB (P21912)
I44M (p.Ile44Met) in SDHB (P21912) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Pheochromocytoma; Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma. The record also includes structural context.
I44M (p.Ile44Met) variant details
- p.Ile44Met
- Ensembl rs2078100339
- Uncertain significance
- Pheochromocytoma; Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma
- Missense
- ClinVar: Uncertain significance (Pheochromocytoma; Gastrointestinal stromal tumor; Pheochromocyto)
- UniProt: Uncertain significance
- Structural context available