V5G (p.Val5Gly) variant of SDHB (P21912)
V5G (p.Val5Gly) 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; Pheochromocytoma/paraganglioma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
V5G (p.Val5Gly) variant details
- p.Val5Gly
- rs760565241
- ClinGen CA089519
- ClinVar RCV000547089
- ClinVar RCV001011890
- Uncertain significance
- Gastrointestinal stromal tumor; Pheochromocytoma; Pheochromocytoma/paraganglioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- REVEL 0.51
- AlphaMissense 0.07
- MetaLR 0.83
- MetaSVM 0.35
- CADD 16.60
- PolyPhen-2 0.01
- ClinVar: Uncertain significance (Gastrointestinal stromal tumor; Pheochromocytoma; Pheochromocyto)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 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)