H57R (p.His57Arg) variant of SDHB (P21912)
H57R (p.His57Arg) in SDHB (P21912) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Pheochromocytoma; Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
H57R (p.His57Arg) variant details
- p.His57Arg
- rs35962811
- ClinGen CA015557
- ClinVar RCV000122000
- ClinVar RCV000129655
- Benign/Likely benign
- Pheochromocytoma; Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.55
- CADD 0.29
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Benign/Likely benign (Pheochromocytoma; Gastrointestinal stromal tumor; Pheochromocyto)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:GWD population (allele frequency 0.03)
- 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)