A3V (p.Ala3Val) variant of SDHB (P21912)
A3V (p.Ala3Val) 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 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
A3V (p.Ala3Val) variant details
- p.Ala3Val
- rs11203289
- ClinGen CA338230874
- ClinVar RCV000557203
- ClinVar RCV003302799
- Uncertain significance
- Gastrointestinal stromal tumor; Pheochromocytoma; Pheochromocytoma/paraganglioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.643
- REVEL 0.58
- CADD 25.20
- PolyPhen-2 0.06
- SIFT 0.04
- ClinVar: Uncertain significance (Gastrointestinal stromal tumor; Pheochromocytoma; Pheochromocyto)
- EBI: Benign
- UniProt: Benign
- Most common in the South Asian population (allele frequency 1.2e-05)
- 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)