L22V (p.Leu22Val) variant of PDGFRA (P16234)
L22V (p.Leu22Val) 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 0.31 / 1. The record also includes published literature and structural context.
L22V (p.Leu22Val) variant details
- p.Leu22Val
- rs975510328
- ClinGen CA356888171
- ClinVar RCV003048941
- Uncertain significance
- Gastrointestinal stromal tumor
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- AlphaMissense 0.05
- MetaLR 0.19
- MetaSVM -0.93
- PolyPhen-2 0.00
- SIFT 0.54
- ClinVar: Uncertain significance (Gastrointestinal stromal tumor)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)