A7V (p.Ala7Val) variant of PDGFRA (P16234)
A7V (p.Ala7Val) 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 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
A7V (p.Ala7Val) variant details
- p.Ala7Val
- rs764472307
- ClinGen CA2922200
- cosmic curated COSV99956
- ClinVar RCV000232147
- Conflicting interpretations
- Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal; Hereditar
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.05
- MetaLR 0.20
- MetaSVM -0.98
- CADD 5.83
- PolyPhen-2 0.00
- SIFT 0.30
- ClinVar: Conflicting classifications of pathogenicity (Polyps, multiple and recurrent inflammatory fibroid, gastrointes)
- EBI: Benign
- UniProt: Benign
- Most common in the East Asian population (allele frequency 2.5e-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)