N35D (p.Asn35Asp) variant of PDGFRA (P16234)
N35D (p.Asn35Asp) 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; Hereditar. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
N35D (p.Asn35Asp) variant details
- p.Asn35Asp
- rs769386190
- ClinGen CA2922232
- ClinVar RCV000470819
- ClinVar RCV002393111
- Conflicting interpretations
- Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal; Hereditar
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.04
- MetaLR 0.00
- MetaSVM -0.93
- CADD 11.80
- PolyPhen-2 0.00
- SIFT 0.78
- ClinVar: Conflicting classifications of pathogenicity (Polyps, multiple and recurrent inflammatory fibroid, gastrointes)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9.9e-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)