R46G (p.Arg46Gly) variant of SDHB (P21912)
R46G (p.Arg46Gly) in SDHB (P21912) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Gastrointestinal stromal tumor; Pheochromocytoma; Pheochromocytoma/paraganglioma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
R46G (p.Arg46Gly) variant details
- p.Arg46Gly
- rs74315370
- ClinGen CA015497
- ClinVar RCV000216404
- ClinVar RCV000800486
- Pathogenic
- Gastrointestinal stromal tumor; Pheochromocytoma; Pheochromocytoma/paraganglioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.981
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.98
- ClinVar: Pathogenic (Gastrointestinal stromal tumor; Pheochromocytoma; Pheochromocyto)
- EBI: Pathogenic (in PPGL4)
- UniProt: Pathogenic (in PPGL4)
- Structural context available
- Cited in: Germ-line mutations in nonsyndromic pheochromocytoma. (PMID 12000816)
- Cited in: Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas. (PMID 14500403)