R12W (p.Arg12Trp) variant of SDHB (P21912)
R12W (p.Arg12Trp) in SDHB (P21912) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Pheochromocytoma/paraganglioma syndrome 4; Pheochromocytoma; Gastrointestinal st. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
R12W (p.Arg12Trp) variant details
- p.Arg12Trp
- rs761996626
- ClinGen CA338230823
- ClinVar RCV000566006
- ClinVar RCV000822512
- Uncertain significance
- Pheochromocytoma/paraganglioma syndrome 4; Pheochromocytoma; Gastrointestinal st
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.36
- CADD 13.80
- PolyPhen-2 0.00
- SIFT 0.07
- ClinVar: Uncertain significance (Pheochromocytoma/paraganglioma syndrome 4; Pheochromocytoma; Gas)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 6.5e-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)