Q24H (p.Gln24His) variant of SDHB (P21912)
Q24H (p.Gln24His) in SDHB (P21912) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Pheochromocytoma/paraganglioma syndrome 4; Gastrointestinal stromal tumor; Pheoc. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
Q24H (p.Gln24His) variant details
- p.Gln24His
- rs1553179312
- ClinGen CA338230583
- ClinVar RCV001053994
- ClinVar RCV004000065
- Uncertain significance
- Pheochromocytoma/paraganglioma syndrome 4; Gastrointestinal stromal tumor; Pheoc
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- REVEL 0.39
- CADD 32.00
- PolyPhen-2 0.00
- SIFT 0.03
- ClinVar: Uncertain significance (Pheochromocytoma/paraganglioma syndrome 4; Gastrointestinal stro)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)