P3S (p.Pro3Ser) variant of EGFR (Epidermal growth factor receptor)
P3S (p.Pro3Ser) 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 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
P3S (p.Pro3Ser) variant details
- p.Pro3Ser
- rs773069229
- ClinGen CA367611173
- ClinVar RCV002039847
- ClinVar RCV005552443
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.18
- AlphaMissense 0.07
- MetaLR 0.35
- MetaSVM -0.71
- CADD 9.81
- PolyPhen-2 0.18
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- 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)