K51T (p.Lys51Thr) variant of SDHB (P21912)
K51T (p.Lys51Thr) in SDHB (P21912) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Pheochromocytoma; Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes published literature and structural context.
K51T (p.Lys51Thr) variant details
- p.Lys51Thr
- rs2101541430
- ClinGen CA338227977
- ClinVar RCV001945934
- Ensembl rs2101541430
- Uncertain significance
- Pheochromocytoma; Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.561
- AlphaMissense 0.11
- MetaLR 0.86
- MetaSVM 0.71
- PolyPhen-2 0.00
- SIFT 0.49
- EVE 0.10
- ClinVar: Uncertain significance (Pheochromocytoma; Gastrointestinal stromal tumor; Pheochromocyto)
- 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)