T33K (p.Thr33Lys) variant of SDHC (Q99643)
T33K (p.Thr33Lys) in SDHC (Q99643) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma syndrome 3; not p. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
T33K (p.Thr33Lys) variant details
- p.Thr33Lys
- rs148566767
- ClinGen CA343360915
- cosmic curated COSV10441
- ClinVar RCV001063469
- Uncertain significance
- Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma syndrome 3; not p
- Missense
- Variant Prioritization Score for Impact Estimate 0.7
- AlphaMissense 0.23
- MetaLR 0.92
- MetaSVM 1.01
- PolyPhen-2 0.89
- SIFT 0.01
- EVE 0.42
- ClinVar: Uncertain significance (Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma s)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)