N33Y (p.Asn33Tyr) variant of PDGFRA (P16234)
N33Y (p.Asn33Tyr) in PDGFRA (P16234) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal; not provi. 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.
N33Y (p.Asn33Tyr) variant details
- p.Asn33Tyr
- rs200979664
- ClinGen CA161426
- cosmic curated COSV57268
- ClinVar RCV000121791
- Conflicting interpretations
- Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal; not provi
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.11
- MetaLR 0.11
- MetaSVM -1.06
- CADD 23.70
- PolyPhen-2 0.92
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Polyps, multiple and recurrent inflammatory fibroid, gastrointes)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:PUR population (allele frequency 0.0051)
- 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)