A21T (p.Ala21Thr) variant of SDHB (P21912)
A21T (p.Ala21Thr) 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/paraganglioma syndrome 4; Pheoc. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
A21T (p.Ala21Thr) variant details
- p.Ala21Thr
- rs774266782
- ClinGen CA089680
- ClinVar RCV001321600
- ExAC rs774266782
- Uncertain significance
- Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma syndrome 4; Pheoc
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.37
- AlphaMissense 0.09
- MetaLR 0.82
- MetaSVM 0.44
- CADD 14.40
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma s)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 3.5e-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)