I30V (p.Ile30Val) variant of PDGFRA (P16234)
I30V (p.Ile30Val) in PDGFRA (P16234) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Gastrointestinal stromal tumor; Hereditary cancer-predisposing syn. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
I30V (p.Ile30Val) variant details
- p.Ile30Val
- rs780747709
- ClinGen CA2922231
- ClinVar RCV000472004
- ClinVar RCV001018477
- Conflicting interpretations
- not provided; Gastrointestinal stromal tumor; Hereditary cancer-predisposing syn
- Missense
- Variant Prioritization Score for Impact Estimate 0.139
- REVEL 0.06
- MetaLR 0.06
- MetaSVM -1.04
- CADD 11.80
- PolyPhen-2 0.01
- SIFT 0.29
- ClinVar: Conflicting classifications of pathogenicity (not provided; Gastrointestinal stromal tumor; Hereditary cancer-)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 3e-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)