D50Y (p.Asp50Tyr) variant of SDHB (P21912)
D50Y (p.Asp50Tyr) in SDHB (P21912) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Pheochromocytoma; Pheochromocytoma/paraganglioma syndrome 4; Gastrointestinal st. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes published literature and structural context.
D50Y (p.Asp50Tyr) variant details
- p.Asp50Tyr
- rs1060503765
- ClinGen CA338227992
- ClinVar RCV003176554
- ClinVar RCV003778954
- Uncertain significance
- Pheochromocytoma; Pheochromocytoma/paraganglioma syndrome 4; Gastrointestinal st
- Missense
- Variant Prioritization Score for Impact Estimate 0.605
- AlphaMissense 0.14
- MetaLR 0.93
- MetaSVM 0.85
- PolyPhen-2 0.04
- SIFT 0.01
- EVE 0.20
- ClinVar: Uncertain significance (Pheochromocytoma; Pheochromocytoma/paraganglioma syndrome 4; Gas)
- 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)