G12V (p.Gly12Val) variant of PDGFRA (P16234)
G12V (p.Gly12Val) in PDGFRA (P16234) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Gastrointestinal stromal tumor. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
G12V (p.Gly12Val) variant details
- p.Gly12Val
- rs1440200916
- ClinGen CA356888102
- ClinVar RCV002299508
- TOPMed rs1440200916
- Uncertain significance
- Gastrointestinal stromal tumor
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.14
- AlphaMissense 0.09
- MetaLR 0.33
- MetaSVM -0.70
- CADD 21.40
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (Gastrointestinal stromal tumor)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)