P20L (p.Pro20Leu) variant of EGFR (Epidermal growth factor receptor)
P20L (p.Pro20Leu) in EGFR (Epidermal growth factor receptor) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
P20L (p.Pro20Leu) variant details
- p.Pro20Leu
- rs1028735720
- ClinGen CA367611266
- ClinVar RCV001345638
- ClinVar RCV005330726
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.119
- REVEL 0.10
- MetaLR 0.21
- MetaSVM -0.87
- CADD 0.05
- PolyPhen-2 0.00
- SIFT 0.72
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9.4e-07)
- Structural context available
- Cited in: Molecular testing guideline for selection of lung cancer patients for EGFR and ALK tyrosine kinase inhibitors… (PMID 23562183)
- Cited in: Treatment of stage IV non-small cell lung cancer: Diagnosis and management of lung cancer, 3rd ed: American College of… (PMID 23649446)