G12A (p.Gly12Ala) variant of PDGFRA (P16234)
G12A (p.Gly12Ala) in PDGFRA (P16234) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Gastrointestinal stromal tumor; Ovarian cancer. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
G12A (p.Gly12Ala) variant details
- p.Gly12Ala
- rs1440200916
- ClinGen CA356888101
- ClinVar RCV001339045
- ClinVar RCV003154000
- Conflicting interpretations
- Gastrointestinal stromal tumor; Ovarian cancer
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- AlphaMissense 0.09
- MetaLR 0.33
- MetaSVM -0.70
- PolyPhen-2 0.00
- SIFT 0.05
- MutPred 0.57
- ClinVar: Conflicting classifications of pathogenicity (Gastrointestinal stromal tumor; Ovarian cancer)
- EBI: Benign
- UniProt: Benign
- Population evidence available
- 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)