Q24R (p.Gln24Arg) variant of SDHB (P21912)
Q24R (p.Gln24Arg) 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 0.60 / 1. The record also includes published literature and structural context.
Q24R (p.Gln24Arg) variant details
- p.Gln24Arg
- rs878854580
- ClinGen CA338230587
- ClinVar RCV001344511
- ClinVar RCV002377462
- Uncertain significance
- not provided; Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma syn
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- AlphaMissense 0.07
- MetaLR 0.83
- MetaSVM 0.53
- PolyPhen-2 0.00
- SIFT 0.30
- MutPred 0.48
- 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)