A7E (p.Ala7Glu) variant of PDGFRA (P16234)
A7E (p.Ala7Glu) in PDGFRA (P16234) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; Gastrointestinal stromal tumor. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
A7E (p.Ala7Glu) variant details
- p.Ala7Glu
- rs764472307
- ClinGen CA356888071
- cosmic curated COSV57265
- ClinVar RCV000633759
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Gastrointestinal stromal tumor
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.22
- MetaLR 0.43
- MetaSVM -0.52
- CADD 3.45
- PolyPhen-2 0.04
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Gastrointestinal stroma)
- EBI: Benign
- UniProt: Benign
- 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)