S29F (p.Ser29Phe) variant of PDGFRA (P16234)
S29F (p.Ser29Phe) 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 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
S29F (p.Ser29Phe) variant details
- p.Ser29Phe
- rs587778600
- ClinGen CA161429
- ClinVar RCV000121792
- ClinVar RCV001854668
- Uncertain significance
- Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal; Hereditar
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.15
- MetaLR 0.11
- MetaSVM -1.13
- CADD 22.10
- PolyPhen-2 0.48
- SIFT 0.36
- 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 1.8e-06)
- 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)