W47R (p.Trp47Arg) variant of SDHB (P21912)
W47R (p.Trp47Arg) in SDHB (P21912) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Pheochromocytoma; Pheochromocytoma/para. 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.
W47R (p.Trp47Arg) variant details
- p.Trp47Arg
- rs2525059756
- ClinGen CA338228089
- ClinVar RCV002389222
- ClinVar RCV005227720
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Pheochromocytoma; Pheochromocytoma/para
- Missense
- Variant Prioritization Score for Impact Estimate 0.829
- REVEL 0.95
- CADD 29.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Pheochromocytoma; Pheoc)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: The UK NEQAS for Molecular Genetics scheme for gastrointestinal stromal tumour: findings and recommendations following… (PMID 22685257)
- Cited in: Tumor markers in colorectal cancer, gastric cancer and gastrointestinal stromal cancers: European group on tumor… (PMID 23852704)