W200R (p.Trp200Arg) variant of SDHB (P21912)
W200R (p.Trp200Arg) in SDHB (P21912) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma syndrome 4; Pheoc. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
W200R (p.Trp200Arg) variant details
- p.Trp200Arg
- rs1557739966
- ClinGen CA338271075
- ClinVar RCV000693104
- ClinVar RCV001024760
- Likely pathogenic
- Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma syndrome 4; Pheoc
- Missense
- Variant Prioritization Score for Impact Estimate 0.886
- REVEL 0.99
- AlphaMissense 1.00
- MetaLR 0.93
- MetaSVM 1.08
- CADD 32.00
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma s)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- 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)