V39M (p.Val39Met) variant of PDGFRA (P16234)
V39M (p.Val39Met) 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; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
V39M (p.Val39Met) variant details
- p.Val39Met
- rs1553902356
- ClinGen CA356888278
- ClinVar RCV000633757
- ClinVar RCV002358776
- Uncertain significance
- Gastrointestinal stromal tumor; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.16
- AlphaMissense 0.26
- MetaLR 0.14
- MetaSVM -0.92
- CADD 23.70
- PolyPhen-2 0.97
- ClinVar: Uncertain significance (Gastrointestinal stromal tumor; Hereditary cancer-predisposing s)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.6e-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)