Q24L (p.Gln24Leu) variant of SDHB (P21912)
Q24L (p.Gln24Leu) in SDHB (P21912) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Pheochromocytoma; Pheochromocytoma/para. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes published literature and structural context.
Q24L (p.Gln24Leu) variant details
- p.Gln24Leu
- rs878854580
- ClinGen CA338230586
- ClinVar RCV002301421
- ClinVar RCV003308107
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Pheochromocytoma; Pheochromocytoma/para
- 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 (Hereditary cancer-predisposing syndrome; Pheochromocytoma; Pheoc)
- 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)