A33T (p.Ala33Thr) variant of SDHB (P21912)
A33T (p.Ala33Thr) in SDHB (P21912) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma syndrome 4; Pheoc. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
A33T (p.Ala33Thr) variant details
- p.Ala33Thr
- rs777898500
- ClinGen CA089777
- ClinVar RCV001315755
- ClinVar RCV002384398
- Conflicting interpretations
- Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma syndrome 4; Pheoc
- Missense
- Variant Prioritization Score for Impact Estimate 0.577
- REVEL 0.61
- CADD 18.10
- PolyPhen-2 0.16
- SIFT 0.15
- ClinVar: Conflicting classifications of pathogenicity (Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma s)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 0.00041)
- 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)