P49L (p.Pro49Leu) variant of SDHB (P21912)
P49L (p.Pro49Leu) in SDHB (P21912) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Gastrointestinal stromal tumor; Pheochromocytoma; Pheochromocytoma/paraganglioma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes published literature and structural context.
P49L (p.Pro49Leu) variant details
- p.Pro49Leu
- rs2078100131
- ClinGen CA338228009
- ClinVar RCV001234532
- ClinVar RCV004004854
- Uncertain significance
- Gastrointestinal stromal tumor; Pheochromocytoma; Pheochromocytoma/paraganglioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.814
- AlphaMissense 0.65
- MetaLR 0.98
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.49
- ClinVar: Uncertain significance (Gastrointestinal stromal tumor; Pheochromocytoma; 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)