V5F (p.Val5Phe) variant of SDHB (P21912)
V5F (p.Val5Phe) 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/paraganglioma syndrome 4; Pheoc. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes published literature and structural context.
V5F (p.Val5Phe) variant details
- p.Val5Phe
- rs962717797
- ClinGen CA338230858
- ClinVar RCV000696453
- gnomAD rs962717797
- Uncertain significance
- Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma syndrome 4; Pheoc
- Missense
- Variant Prioritization Score for Impact Estimate 0.611
- AlphaMissense 0.15
- MetaLR 0.82
- MetaSVM 0.46
- PolyPhen-2 0.00
- SIFT 0.16
- MutPred 0.33
- ClinVar: Uncertain significance (Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma s)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)