A7S (p.Ala7Ser) variant of PDGFRA (P16234)
A7S (p.Ala7Ser) in PDGFRA (P16234) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; not provided; Gastrointestinal stromal. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
A7S (p.Ala7Ser) variant details
- p.Ala7Ser
- rs1467619698
- ClinGen CA356888070
- ClinVar RCV001223496
- ClinVar RCV004768938
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided; Gastrointestinal stromal
- Missense
- Variant Prioritization Score for Impact Estimate 0.153
- REVEL 0.02
- MetaLR 0.28
- MetaSVM -0.75
- CADD 7.64
- PolyPhen-2 0.01
- SIFT 0.71
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided; Gastroint)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)