L14F (p.Leu14Phe) variant of PDGFRA (P16234)
L14F (p.Leu14Phe) 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; Polyps, multiple and recurrent inflammatory fibr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
L14F (p.Leu14Phe) variant details
- p.Leu14Phe
- rs1722520036
- ClinGen CA356888113
- ClinVar RCV001061222
- ClinVar RCV003473678
- Uncertain significance
- Gastrointestinal stromal tumor; Polyps, multiple and recurrent inflammatory fibr
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.06
- AlphaMissense 0.06
- MetaLR 0.28
- MetaSVM -0.57
- CADD 20.50
- PolyPhen-2 0.01
- ClinVar: Uncertain significance (Gastrointestinal stromal tumor; Polyps, multiple and recurrent i)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)