L14I (p.Leu14Ile) variant of PDGFRA (P16234)
L14I (p.Leu14Ile) 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 0.36 / 1. The record also includes published literature and structural context.
L14I (p.Leu14Ile) variant details
- p.Leu14Ile
- rs1722520036
- ClinGen CA356888111
- ClinVar RCV001315089
- Ensembl rs1722520036
- Uncertain significance
- Gastrointestinal stromal tumor
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- AlphaMissense 0.06
- MetaLR 0.28
- MetaSVM -0.57
- PolyPhen-2 0.01
- SIFT 0.26
- MutPred 0.53
- 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)