M1V (p.Met1Val) variant of PDGFRA (P16234)
M1V (p.Met1Val) in PDGFRA (P16234) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Gastrointestinal stromal tumor. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs1722515609
- ClinGen CA356888033
- ClinVar RCV003639676
- Uncertain significance
- Gastrointestinal stromal tumor
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- AlphaMissense 0.10
- MetaLR 0.58
- MetaSVM 0.24
- PolyPhen-2 0.71
- SIFT 0.00
- MutPred 0.94
- ClinVar: Uncertain significance (Gastrointestinal stromal tumor)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)