L27F (p.Leu27Phe) variant of PDGFRA (P16234)
L27F (p.Leu27Phe) 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 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
L27F (p.Leu27Phe) variant details
- p.Leu27Phe
- rs529666430
- ClinGen CA356888207
- ClinVar RCV003639816
- 1000Genomes rs529666430
- Uncertain significance
- Gastrointestinal stromal tumor
- Missense
- Variant Prioritization Score for Impact Estimate 0.0668
- REVEL 0.02
- MetaLR 0.02
- MetaSVM -1.00
- CADD 0.05
- PolyPhen-2 0.01
- SIFT 0.74
- ClinVar: Uncertain significance (Gastrointestinal stromal tumor)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 1.2e-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)