A21G (p.Ala21Gly) variant of SDHB (P21912)
A21G (p.Ala21Gly) in SDHB (P21912) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Pheochromocytoma; Gastrointestinal stro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
A21G (p.Ala21Gly) variant details
- p.Ala21Gly
- rs2078163173
- ClinGen CA338230636
- ClinVar RCV001993917
- ClinVar RCV002361322
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Pheochromocytoma; Gastrointestinal stro
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- REVEL 0.41
- AlphaMissense 0.07
- MetaLR 0.85
- MetaSVM 0.55
- CADD 19.90
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Pheochromocytoma; Gastr)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)