A43S (p.Ala43Ser) variant of SDHB (P21912)
A43S (p.Ala43Ser) 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 0.49 / 1. The record also includes published literature and structural context.
A43S (p.Ala43Ser) variant details
- p.Ala43Ser
- rs2078100395
- ClinGen CA338228147
- ClinVar RCV001213509
- Ensembl rs2078100395
- Uncertain significance
- Gastrointestinal stromal tumor; Pheochromocytoma; Pheochromocytoma/paraganglioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- AlphaMissense 0.08
- MetaLR 0.75
- MetaSVM 0.32
- PolyPhen-2 0.00
- SIFT 0.38
- EVE 0.05
- ClinVar: Uncertain significance (Gastrointestinal stromal tumor; Pheochromocytoma; Pheochromocyto)
- EBI: Variant of uncertain significance (in PPGL4)
- UniProt: Uncertain significance (in PPGL4)
- 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)