V39L (p.Val39Leu) variant of PDGFRA (P16234)
V39L (p.Val39Leu) 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 0.37 / 1. The record also includes published literature and structural context.
V39L (p.Val39Leu) variant details
- p.Val39Leu
- rs1553902356
- ClinGen CA356888279
- ClinVar RCV003527592
- Uncertain significance
- Gastrointestinal stromal tumor
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- AlphaMissense 0.26
- MetaLR 0.14
- MetaSVM -0.92
- PolyPhen-2 0.97
- SIFT 0.03
- MutPred 0.48
- ClinVar: Uncertain significance (Gastrointestinal stromal tumor)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)