H132R (p.His132Arg) variant of SDHB (P21912)
H132R (p.His132Arg) in SDHB (P21912) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Gastrointestinal stromal tumor; Pheochromocytoma; Pheochromocytoma/paraganglioma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
H132R (p.His132Arg) variant details
- p.His132Arg
- rs74315372
- ClinGen CA16609937
- ClinVar RCV000470141
- ClinVar RCV001101286
- Uncertain significance
- Gastrointestinal stromal tumor; Pheochromocytoma; Pheochromocytoma/paraganglioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.834
- REVEL 0.90
- AlphaMissense 0.97
- MetaLR 0.98
- MetaSVM 1.07
- CADD 26.20
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Gastrointestinal stromal tumor; Pheochromocytoma; Pheochromocyto)
- EBI: Pathogenic (in PPGL4)
- UniProt: Pathogenic (in PPGL4)
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)
- Cited in: Genetics of Endocrine and Neuroendocrine Neoplasias (PDQ®): Health Professional Version. (PMID 26389271)