V4M (p.Val4Met) variant of SDHB (P21912)
V4M (p.Val4Met) 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 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
V4M (p.Val4Met) variant details
- p.Val4Met
- rs2101551949
- ClinGen CA338230872
- ClinVar RCV001363027
- Ensembl rs2101551949
- Uncertain significance
- Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma syndrome 4; Pheoc
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.31
- CADD 22.70
- PolyPhen-2 0.14
- SIFT 0.04
- ClinVar: Uncertain significance (Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma s)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-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)