L41P (p.Leu41Pro) variant of PDGFRA (P16234)
L41P (p.Leu41Pro) 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 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
L41P (p.Leu41Pro) variant details
- p.Leu41Pro
- rs1341010273
- ClinGen CA356888294
- ClinVar RCV000633798
- gnomAD rs1341010273
- Uncertain significance
- Gastrointestinal stromal tumor
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.20
- MetaLR 0.03
- MetaSVM -1.04
- CADD 23.10
- SIFT 0.14
- ClinVar: Uncertain significance (Gastrointestinal stromal tumor)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- 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)