K35T (p.Lys35Thr) variant of SDHC (Q99643)
K35T (p.Lys35Thr) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes published literature and structural context.
K35T (p.Lys35Thr) variant details
- p.Lys35Thr
- rs1342764291
- ClinGen CA343360949
- ClinVar RCV001322510
- gnomAD rs1342764291
- Uncertain significance
- Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma syndrome 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.662
- AlphaMissense 0.28
- MetaLR 0.91
- MetaSVM 1.00
- PolyPhen-2 0.07
- SIFT 0.02
- EVE 0.36
- ClinVar: Uncertain significance (Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma s)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)