S4Y (p.Ser4Tyr) variant of PDGFRA (P16234)
S4Y (p.Ser4Tyr) 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.
S4Y (p.Ser4Tyr) variant details
- p.Ser4Tyr
- rs138929755
- ClinGen CA2922194
- ClinVar RCV000705127
- ClinVar RCV004569387
- Uncertain significance
- Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal; Hereditar
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- REVEL 0.03
- MetaLR 0.28
- MetaSVM -0.72
- CADD 16.00
- PolyPhen-2 0.00
- SIFT 0.09
- ClinVar: Uncertain significance (Polyps, multiple and recurrent inflammatory fibroid, gastrointes)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-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)