D74A (p.Asp74Ala) variant of SDHB (P21912)
D74A (p.Asp74Ala) in SDHB (P21912) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Pheochromocytoma; Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
D74A (p.Asp74Ala) variant details
- p.Asp74Ala
- rs876658713
- ClinGen CA10577678
- ClinVar RCV000222241
- ClinVar RCV000475368
- Pathogenic/Likely pathogenic
- Pheochromocytoma; Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.857
- REVEL 0.94
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.05
- CADD 28.90
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Pheochromocytoma; Gastrointestinal stromal tumor; Pheochromocyto)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- 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)