Q214H (p.Gln214His) variant of SDHB (P21912)
Q214H (p.Gln214His) in SDHB (P21912) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
Q214H (p.Gln214His) variant details
- p.Gln214His
- rs1278834014
- ClinGen CA338270924
- ClinVar RCV000505356
- ClinVar RCV000818248
- Likely pathogenic
- not provided; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.833
- REVEL 0.89
- CADD 35.00
- PolyPhen-2 0.82
- SIFT 0.03
- ClinVar: Likely pathogenic (not provided; Hereditary cancer-predisposing syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)