L31P (p.Leu31Pro) variant of PDGFRA (P16234)
L31P (p.Leu31Pro) 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 0.35 / 1. The record also includes published literature and structural context.
L31P (p.Leu31Pro) variant details
- p.Leu31Pro
- rs2110241819
- ClinGen CA356888228
- ClinVar RCV002019551
- Ensembl rs2110241819
- Uncertain significance
- Gastrointestinal stromal tumor
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- AlphaMissense 0.67
- MetaLR 0.07
- MetaSVM -1.13
- PolyPhen-2 0.77
- SIFT 0.21
- MutPred 0.48
- 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)