V38L (p.Val38Leu) variant of PDGFRA (P16234)
V38L (p.Val38Leu) 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; Gastrointestinal stromal tumor. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes published literature and structural context.
V38L (p.Val38Leu) variant details
- p.Val38Leu
- rs1560466594
- ClinGen CA356888274
- ClinVar RCV001244930
- ClinVar RCV002322159
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Gastrointestinal stromal tumor
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- AlphaMissense 0.22
- MetaLR 0.09
- MetaSVM -1.10
- PolyPhen-2 0.09
- SIFT 0.16
- MutPred 0.33
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Gastrointestinal stroma)
- 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)