P20Q (p.Pro20Gln) variant of EGFR (Epidermal growth factor receptor)
P20Q (p.Pro20Gln) 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.
P20Q (p.Pro20Gln) variant details
- p.Pro20Gln
- rs1028735720
- ClinGen CA159566183
- ClinVar RCV000987871
- ClinVar RCV001244454
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.122
- REVEL 0.12
- MetaLR 0.17
- MetaSVM -0.93
- CADD 0.09
- PolyPhen-2 0.00
- SIFT 0.31
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.00019)
- 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)