P6L (p.Pro6Leu) variant of PDGFRA (P16234)
P6L (p.Pro6Leu) 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; Idiopathi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
P6L (p.Pro6Leu) variant details
- p.Pro6Leu
- rs754092062
- ClinGen CA2922197
- cosmic curated COSV57271
- ClinVar RCV000234684
- Conflicting interpretations
- Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal; Idiopathi
- Missense
- Variant Prioritization Score for Impact Estimate 0.0909
- REVEL 0.04
- MetaLR 0.16
- MetaSVM -1.02
- CADD 1.05
- PolyPhen-2 0.00
- SIFT 0.77
- ClinVar: Conflicting classifications of pathogenicity (Polyps, multiple and recurrent inflammatory fibroid, gastrointes)
- EBI: Benign
- UniProt: Benign
- Most common in the Ashkenazi Jewish population (allele frequency 0.0012)
- 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)