L9V (p.Leu9Val) variant of PDGFRA (P16234)
L9V (p.Leu9Val) 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 0.46 / 1. The record also includes published literature and structural context.
L9V (p.Leu9Val) variant details
- p.Leu9Val
- rs375117626
- ClinGen CA356888082
- ClinVar RCV001992266
- ESP rs375117626
- Uncertain significance
- Gastrointestinal stromal tumor
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- AlphaMissense 0.07
- MetaLR 0.49
- MetaSVM -0.13
- PolyPhen-2 0.99
- SIFT 0.13
- MutPred 0.43
- ClinVar: Uncertain significance (Gastrointestinal stromal tumor)
- EBI: Likely benign
- UniProt: Likely benign
- 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)