T32N (p.Thr32Asn) variant of SDHC (Q99643)
T32N (p.Thr32Asn) in SDHC (Q99643) 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/paraganglioma syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
T32N (p.Thr32Asn) variant details
- p.Thr32Asn
- rs1571851464
- ClinGen CA343360901
- ClinVar RCV001019542
- ClinVar RCV001204950
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Pheochromocytoma/paraganglioma syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.656
- REVEL 0.61
- AlphaMissense 0.14
- MetaLR 0.92
- MetaSVM 0.95
- CADD 25.40
- PolyPhen-2 0.32
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Pheochromocytoma/paraga)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- 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)