S4F (p.Ser4Phe) variant of PDGFRA (P16234)
S4F (p.Ser4Phe) in PDGFRA (P16234) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal; Hereditar. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
S4F (p.Ser4Phe) variant details
- p.Ser4Phe
- rs138929755
- ClinGen CA356888056
- cosmic curated COSV10585
- ClinVar RCV000545506
- Uncertain significance
- Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal; Hereditar
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- REVEL 0.02
- MetaLR 0.29
- MetaSVM -0.68
- CADD 17.50
- PolyPhen-2 0.05
- SIFT 0.22
- ClinVar: Uncertain significance (Polyps, multiple and recurrent inflammatory fibroid, gastrointes)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-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)