T31R (p.Thr31Arg) variant of SDHB (P21912)
T31R (p.Thr31Arg) 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 population frequency data, published literature, and structural context.
T31R (p.Thr31Arg) variant details
- p.Thr31Arg
- rs1553178750
- ClinGen CA338228352
- ClinVar RCV002295034
- ClinVar RCV006287633
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Pheochromocytoma; Pheochromocytoma/para
- Missense
- Variant Prioritization Score for Impact Estimate 0.598
- REVEL 0.54
- AlphaMissense 0.19
- MetaLR 0.86
- MetaSVM 0.66
- CADD 23.40
- PolyPhen-2 0.02
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Pheochromocytoma; Pheoc)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)