F45L (p.Phe45Leu) variant of PDGFRA (P16234)
F45L (p.Phe45Leu) in PDGFRA (P16234) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal; Hereditar. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
F45L (p.Phe45Leu) variant details
- p.Phe45Leu
- rs149408217
- ClinGen CA2922237
- cosmic curated COSV10585
- ClinVar RCV000474628
- Conflicting interpretations
- Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal; Hereditar
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.30
- MetaLR 0.00
- MetaSVM -0.28
- CADD 23.10
- PolyPhen-2 0.23
- SIFT 0.08
- ClinVar: Conflicting classifications of pathogenicity (Polyps, multiple and recurrent inflammatory fibroid, gastrointes)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00017)
- 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)