P20R (p.Pro20Arg) variant of EGFR (Epidermal growth factor receptor)
P20R (p.Pro20Arg) 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.
P20R (p.Pro20Arg) variant details
- p.Pro20Arg
- rs1028735720
- ClinGen CA367611265
- ClinVar RCV001988619
- ClinVar RCV005331106
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.119
- REVEL 0.10
- MetaLR 0.19
- MetaSVM -0.92
- CADD 0.09
- PolyPhen-2 0.00
- SIFT 0.65
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 1.3e-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)