G17V (p.Gly17Val) variant of PDGFRA (P16234)
G17V (p.Gly17Val) 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 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
G17V (p.Gly17Val) variant details
- p.Gly17Val
- rs766600687
- ClinGen CA2922226
- ClinVar RCV000540572
- ClinVar RCV003380601
- Conflicting interpretations
- Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal; Hereditar
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.18
- MetaLR 0.51
- MetaSVM -0.02
- CADD 25.20
- PolyPhen-2 0.60
- SIFT 0.05
- ClinVar: Conflicting classifications of pathogenicity (Polyps, multiple and recurrent inflammatory fibroid, gastrointes)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 7.2e-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)