P3L (p.Pro3Leu) variant of EGFR (Epidermal growth factor receptor)
P3L (p.Pro3Leu) 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 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
P3L (p.Pro3Leu) variant details
- p.Pro3Leu
- rs749433287
- ClinGen CA4265097
- ClinVar RCV001316898
- ClinVar RCV005038069
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- REVEL 0.17
- MetaLR 0.32
- MetaSVM -0.77
- CADD 17.00
- PolyPhen-2 0.00
- SIFT 0.14
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- 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)