L22F (p.Leu22Phe) variant of PDGFRA (P16234)
L22F (p.Leu22Phe) in PDGFRA (P16234) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Gastrointestinal stromal tumor; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
L22F (p.Leu22Phe) variant details
- p.Leu22Phe
- rs975510328
- ClinGen CA96847142
- ClinVar RCV000543350
- ClinVar RCV005398782
- Conflicting interpretations
- Gastrointestinal stromal tumor; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.143
- REVEL 0.06
- AlphaMissense 0.05
- MetaLR 0.19
- MetaSVM -0.93
- CADD 4.31
- PolyPhen-2 0.00
- ClinVar: Conflicting classifications of pathogenicity (Gastrointestinal stromal tumor; Hereditary cancer-predisposing s)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-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)