V5A (p.Val5Ala) variant of SDHB (P21912)
V5A (p.Val5Ala) in SDHB (P21912) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma syn. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes published literature and structural context.
V5A (p.Val5Ala) variant details
- p.Val5Ala
- rs760565241
- ClinGen CA338230856
- ClinVar RCV000804910
- ClinVar RCV003472381
- Uncertain significance
- not provided; Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma syn
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- AlphaMissense 0.07
- MetaLR 0.83
- MetaSVM 0.35
- PolyPhen-2 0.01
- SIFT 0.26
- MutPred 0.33
- ClinVar: Uncertain significance (not provided; Gastrointestinal stromal tumor; Pheochromocytoma/p)
- 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)